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Abramson Cancer CenterNCI CANCERLIT® Search: Neurofibromatosis 1 and 2 - January 2002
National Cancer Institute®
Last Modified: January 1, 2002
Table of Contents
1
UI - 11476067
AU - Blakley P; Louis DN; Short MP; MacCollin M
TI -
A clinical study of patients with multiple isolated neurofibromas.
SO - J Med Genet 2001 Jul;38(7):485-8
2
UI - 11448944
AU - Gutmann DH; Hirbe AC; Haipek CA
TI -
Functional analysis of neurofibromatosis 2 (NF2) missense mutations.
SO - Hum Mol Genet 2001 Jul 1;10(14):1519-29
AD - Department of Neurology, Washington University School of Medicine, Box
8111, 660 South Euclid Avenue, St Louis, MO 63110, USA.
gutmannd@neuro.wustl.edu
Neurofibromatosis 2 (NF2) is a tumor predisposition syndrome in which
affected individuals develop nervous system tumors at an increased
frequency. The most common tumor in individuals with NF2 is the
schwannoma, which is composed of neoplastic Schwann cells lacking NF2
gene expression. Moreover, inactivation of the NF2 gene is observed in
nearly all sporadic schwannomas, suggesting that the NF2 gene is a
critical growth regulator for Schwann cells. In an effort to gain
insights into the function of the NF2 gene product, merlin or
schwannomin, we performed a detailed functional analysis of eight
naturally occurring non-conservative missense mutations in the NF2 gene.
Using a regulatable expression system in rat schwannoma cells, we
analyzed proliferation, actin cytoskeleton-mediated events and merlin
folding. In this report, we demonstrate that mutations clustered in the
predicted alpha-helical region did not impair the function of merlin
whereas those in either the N- or C-terminus of the protein rendered
merlin inactive as a negative growth regulator. These results suggest
that the key functional domains of merlin lie within the highly
conserved FERM domain and the unique C-terminus of the protein.
3
UI - 11706558
AU - Ishii S; Han S; Shiiba K; Mizoi T; Okabe M; Horii A; Nagura H; Matsuno
TI -
S; Sasaki I
Allelic loss of the NF1 gene in anal malignant melanoma in a patient
with neurofibromatosis type 1.
SO - Int J Clin Oncol 2001 Aug;6(4):201-4
AD - Division of Biological Regulation and Oncology, Department of Surgery,
Tohoku University Graduate School of Medicine, 1-1 Seiryomachi, Aoba-ku,
Sendai 980-8574, Japan. s.ishii@surg1.med.tohoku.ac.jp
A 64-year-old man with neurofibromatosis type 1 (NF1) developed a
primary malignant melanoma of the anus. Genetic analysis of the resected
tumor confirmed loss of heterozygosity (LOH) of the NF1 gene. Anorectal
malignant melanoma in NF1 is extremely rare, and genetic studies of the
NF1 gene in such patients have not been reported. The allelic loss
detected in the present patient supports the previously raised idea that
NF1 can function as a tumor suppressor gene in the development of
malignant melanoma in patients with NF1.
4
UI - 11701400
AU - Kaufmann D; Tinschert S; Algermissen B
TI -
Is the distribution of dermal neurofibromas in neurofibromatosis type 1
(NF1) related to the pattern of the skin surface temperature?
SO - Eur J Dermatol 2001 Nov-Dec;11(6):521-6
AD - Abteilung Humangenetik, Universitat Ulm, Albert-Einstein-Allee 11, D
89070 Ulm, Germany. dieter.kaufmann@medizin.uni-ulm.de
The formation of dermal neurofibromas is a hallmark of the
neurofibromatosis type 1 (NF1). A total loss of the NF1 gene product by
stochastic events inactivating the wild type allele in Schwann cells
should precede the development of neurofibromas. Dermal neurofibromas
tend to be located mainly on the surface of the trunk and not in the
body periphery. This distribution partly resembles the density of
sensitive nerve endings in the epidermis. Our hypothesis is that a
better correlation concerns the pattern of normal body surface
temperature. According to our clinical observations we assume that in
skin areas with higher temperatures the number of visible dermal
neurofibromas is higher than in colder areas such as the arms/legs or
nose. It is known that differences in temperature are able to determine
differentiation. We suggest that the regulation of skin temperature is
also involved in the formation of NF1 dermal neurofibromas and is
related to the intrafamilial variability in NF1.
5
UI - 11727613
AU - Kros JM; Wolbers JG
TI -
[Meningiomas: prognostic relevance of histopathologic and genetic
markers]
SO - Ned Tijdschr Geneeskd 2001 Nov 10;145(45):2160-5
AD - Afd. Pathologie, Erasmus Universitair Medisch Centrum, Postbus 2040,
3000 CA Rotterdam. kros@path.fgg.eur.nl
The majority of meningiomas are histologically benign tumours. Location
and invasion of tumour tissue in adjacent structures may hamper radical
resections and give rise to recurrences. The rise in human life
expectancy has prolonged the postoperative period and thus the risk of
tumour recurrence has increased markedly. Infiltration in brain tissue
and mitotic activity are important histologic features which negatively
influence the disease-free duration of the postoperative period.
Molecular studies of relevant genetic defects involved in meningioma are
currently underway, but as yet these are of little clinical relevance.
6
UI - 11727265
AU - Sakamoto A; Oda Y; Oshiro Y; Tamiya S; Iwamoto Y; Tsuneyoshi M
TI -
Immunoexpression of neurofibromin, S-100 protein, and leu-7 and mutation
analysis of the NF1 gene at codon 1423 in osteofibrous dysplasia.
SO - Hum Pathol 2001 Nov;32(11):1245-51
AD - Department of Anatomic Pathology, Faculty of Medicine, Kyushu
University, Fukuoka, Japan.
The NF1 (neurofibromatosis type 1, or von Recklinghausen disease) gene,
is a tumor-suppressor gene, and its product, neurofibromin,
down-regulates ras protein by its guanosine triphosphatase-activating
protein (GAP)-related domain. Osteofibrous dysplasia (OFD) is
characterized by fibroblast-like spindle cells and osseous tissue and is
generally seen in the tibia or fibula during childhood. The precise
nature of OFD remains controversial. Cosegregations of OFD and NF1 have
been reported, and it has been surmised that OFD is associated with the
NF1 gene. We studied the expressions of NF1 gene product (neurofibromin)
and so-called Schwann cell markers (S-100 protein, Leu-7) in 17 cases of
OFD immunohistochemically. Ten cases of fibrous dysplasia (FD) were also
used for the purpose of comparison. Five OFD and 7 FD cases were
analyzed for NF1 gene mutation at codon 1423, which is a GAP-related
domain, by single-strand conformation polymorphism. Fibroblast-like
cells of OFD showed the expression of neurofibromin (5 of 17), S-100
protein (9 of 17), and Leu-7 (5 of 17), and those of FD did not show
these expressions, with the exception of 1 case that showed Leu-7
expression. Regarding the OFD cases, significant correspondence was
found between cases showing expression of neurofibromin and S-100
protein, between cases showing expression of neurofibromin and Leu-7,
and between cases showing expression of S-100 protein and Leu-7 (P <
.01). NF1 gene mutation at codon 1423 was not detected in either the OFD
(0 of 5) or FD (0 of 7) cases. These results seem to suggest the
possible involvement of neurofibromin in the development of OFD, which
is associated with the expression of Schwann cell markers (S-100 protein
and Leu-7). Furthermore, NF1 gene mutation at codon 1423 did not seem to
be related to OFD. Copyright 2001 by W.B. Saunders Company
7
UI - 11735023
AU - Han SS; Cooper DN; Upadhyaya MN
TI -
Evaluation of denaturing high performance liquid chromatography (DHPLC)
for the mutational analysis of the neurofibromatosis type 1 ( NF1) gene.
SO - Hum Genet 2001 Nov;109(5):487-97
AD - Institute of Medical Genetics, University of Wales College of Medicine,
Heath Park, Cardiff CF14 4XN, UK.
The identification of mutations in the NF1 gene causing type 1
neurofibromatosis (NF1) has presented a considerable challenge because
of the large size of the gene, the lack of significant mutational
clustering, the diversity of the underlying pathological lesions and the
presence of NF1 pseudogenes. Denaturing high performance liquid
chromatography (DHPLC), a high throughput, non-hazardous and largely
automated heteroduplex-based technique, is in many ways ideally suited
to mutation detection in this condition. DHPLC was therefore optimised
for the rapid screening of the 60 exons and splice junctions of the NF1
gene in patients with NF1. The sensitivity of DHPLC was evaluated in a
retrospective study of a cohort of 111 unrelated NF1 patients with known
germline mutations; 97% of mutations were detected. In a subsequent
prospective analysis of 50 unrelated NF1 patients, germline mutations
were identified in 34 individuals (68%), 22 of these alterations being
novel. This represents the highest rate of mutation detection so far
reported for the NF1 gene with a single screening technique and genomic
DNA as a target.
8
UI - 11729745
AU - Rudolph G; Haritoglou C; Kalpadakis P; Boergen KP; Meitinger T
TI -
[LEOPARD syndrome with iris-retina-choroid coloboma. Discordant findings
in monozygotic twins (MIM # 151 100)]
SO - Ophthalmologe 2001 Nov;98(11):1101-3
AD - Augenklinik, Ludwig-Maximilians-Universitat Munchen, Mathildenstrasse 8,
80336 Munchen. Guenther.Rudolph@ak-i.med.uni-muenchen.de
INTRODUCTION: The LEOPARD syndrome is an autosomal dominant inherited
disease with severe lentiginosis associated with various abnormalities
such as electrocardiographic abnormalities, ocular hypertelorism,
pulmonary stenosis, abnormalities of the genitalia, retardation of
growth and deafness. Ocular manifestations such as coloboma of the iris,
the retina and the choroid have not been reported so far. PATIENTS: We
report the cases of two 10-year-old identical twins and their mother,
showing typical manifestations consistent with the LEOPARD syndrome.
Additionally, colobomas of the iris, the retina and the choroid were
detected. RESULTS: In addition to the findings typical for the LEOPARD
syndrome, we observed unusual ocular abnormalities in all three
patients. It represents a discordant phenotype in monozygotic twins.
CONCLUSION: LEOPARD syndrome is a disease with multiple alterations and
abnormalities. Although ocular malformations seem to be rare, an
ophthalmological examination is recommended in order to initiate early
visual rehabilitation.
9
UI - 11765821
AU - Governale LS; Vortmeyer AO; Zhuang Z; Oldfield EH
TI -
Fibrous meningioma in a patient with von Hippel-Lindau disease: a
genetic analysis.
SO - J Neurosurg 2001 Dec;95(6):1045-9
AD - Surgical Neurology Branch, National Institute of Neurological Disorders
and Stroke, National Institutes of Health, Bethesda, Maryland 20892,
USA.
Meningioma has been included in the constellation of tumors associated
with von Hippel-Lindau (VHL) disease in previously published reports. It
is unclear whether these tumors are an uncommon component of VHL disease
or are more readily detected in these patients because of the frequency
with which they undergo central nervous system imaging as part of the
routine management of VHL disease. The authors report the case of a
patient with VHL disease in whom a progressively enlarging
supratentorial mass developed and was diagnosed as a hemangioblastoma
because of its appearance on serial magnetic resonance images. At
surgery the tumor displayed the typical features of a meningioma and was
given the histological diagnosis of fibrous meningioma. Single-stranded
conformational polymorphism analysis of the tumor DNA revealed a loss of
heterozygosity at the neurofibromatosis Type 2 gene locus, known to be
associated with sporadically occurring meningiomas. Despite this
finding, the VHL gene locus on the allele from the patient's unaffected
parent was normal. Thus it is unlikely that the occurrence of this
patient's fibrous meningioma was associated with underlying VHL disease.
Given the high frequency of neuroimaging sessions in patients with VHL
disease, some supratentorial lesions that have been given radiological
diagnoses of hemangioblastomas may be incidental meningiomas.
10
UI - 11565554
AU - Bahuau M; Pelet A; Vidaud D; Lamireau T; LeBail B; Munnich A; Vidaud M;
TI -
Lyonnet S; Lacombe D
GDNF as a candidate modifier in a type 1 neurofibromatosis (NF1) enteric
phenotype.
SO - J Med Genet 2001 Sep;38(9):638-43
11
UI - 11704931
AU - Kaufmann D; Muller R; Bartelt B; Wolf M; Kunzi-Rapp K; Hanemann CO;
TI -
Fahsold R; Hein C; Vogel W; Assum G
Spinal neurofibromatosis without cafe-au-lait macules in two families
with null mutations of the NF1 gene.
SO - Am J Hum Genet 2001 Dec;69(6):1395-400
AD - Departments of Human Genetics, University of Ulm, Ulm, Germany.
dieter.kaufmann@medizin.uni-ulm.de
Spinal neurofibromatosis (SNF) is considered to be an alternative form
of neurofibromatosis, showing multiple spinal tumors and cafe-au-lait
macules. Involvement of the neurofibromatosis type 1 (NF1) locus has
been demonstrated, by linkage analysis, for three families with SNF. In
one of them, a cosegregating frameshift mutation in exon 46 of the NF1
gene was identified. In the present study, we report four individuals
from two families who carry NF1 null mutations that would be expected to
cause NF1. Three patients have multiple spinal tumors and no
cafe-au-lait macules, and the fourth has no clinical signs of NF1. In
the first family, a missense mutation (Leu2067Pro) in NF1 exon 33 was
found, and, in the second, a splice-site mutation (IVS31-5A-->G)
enlarging exon 32 by 4 bp at the 5' end was found. The latter mutation
has also been observed in an unrelated patient with classical NF1. Both
NF1 mutations cause a reduction in neurofibromin of approximately 50%,
with no truncated protein present in the cells. This demonstrates that
typical NF1 null mutations can result in a phenotype that is distinct
from classical NF1, showing only a small spectrum of the NF1 symptoms,
such as multiple spinal tumors, but not completely fitting the current
clinical criteria for SNF. We speculate that this phenotype is caused by
an unknown modifying gene that compensates for some, but not all, of the
effects caused by neurofibromin deficiency.
12
UI - 11754043
AU - Fang L; Chalhoub N; Li W; Feingold J; Ortenberg J; Lemieux B; Thirion JP
TI -
Genotype analysis of the NF1 gene in the French Canadians from the
Quebec population.
SO - Am J Med Genet 2001 Dec 1;104(3):189-98
AD - Departement de Microbiologie et d'Infectiologie, Faculte de Medecine,
Universite de Sherbrooke, Sherbrooke, Quebec J1H 5N4, Canada.
We genotyped 19 NF1 families from the French Canadians of the Quebec
population with six intragenic polymorphic markers including 2 RFLPs
(EcoRI and RsaI) and 4 microsatellites (IVS26-2.3, IVS27AC28.4,
IVS27AC33.1, and IVS38GT53.0). Genotype analysis indicated families 7610
and 7473 bear deletions. In Family 7610 the deletion removed the entire
NF1 gene except exons 1 to 4b. The breakpoint of the deletion is located
between exons 4a and 4b. The deletion 7473 was derived from the maternal
chromosome and exons 1 to 5 were deleted. The breakpoint of the deletion
is located between exons 7 and 13. Their phenotypes are reported. The
allele frequencies of microsatellites IVS27AC28.4 and IVS38GT53.0 are
compared to previously reported data from Caucasians, including Spanish
and Italians. The difference is statistically significant (P < 0.0036)
for marker IVS27AC28.4 between the Quebec French Canadian and the
Italian population. Copyright 2001 Wiley-Liss, Inc.
13
UI - 2112353
AU - Mulvihill JJ; Parry DM; Sherman JL; Pikus A; Kaiser-Kupfer MI; Eldridge
TI -
R
NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and
neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update.
SO - Ann Intern Med 1990 Jul 1;113(1):39-52
AD - Department of Human Genetics, University of Pittsburgh, PA 15261.
The neurofibromatoses comprise at least two autosomal dominant disorders
affecting an estimated 100,000 Americans with clinical manifestations
that may require care from every type of clinician. Neurofibromatosis 1
and neurofibromatosis 2 have in common the occurrence of many
neurofibromas but are distinctly different clinical disorders. The
disease genes are on different chromosomes. Magnetic resonance imaging,
particularly with gadolinium enhancement, has generally supplanted other
techniques for visualizing brain, spinal, and other neural tumors in
both disorders. The technique has rekindled the controversy over the
nature and frequency of optic pathway tumors in patients with
neurofibromatosis 1 and has revealed, throughout the brains of young
patients, bright lesions that have uncertain clinical consequences and
unknown pathologic bases. In patients with neurofibromatosis 2, small
acoustic neuromas can be seen, leading to the possibility of excision
with preservation of hearing and facial nerve function. Abnormal hearing
may occur to excess in patients with neurofibromatosis 1, but acoustic
neuroma has never been documented. In patients with neurofibromatosis 2,
a battery of audiologic tests has a high positive predictive power.
Lisch nodules or iris hamartomas, probably a universal sign in adults
with the neurofibromatosis 1 gene, cause no problem with vision.
Posterior capsular lens opacity in patients with neurofibromatosis 2 is
a helpful diagnostic sign and a potential source of additional handicap
in persons at risk for impaired hearing. Progress in the clinical
delineation of the disorders has been matched with considerable research
into the still obscure pathogenesis of the disorders. Such rapid
advances may necessitate reconsideration of the conclusions of the
National Institutes of Health Consensus Development Conference on
Neurofibromatosis, especially those on the categories of persons in
which a neurofibromatosis should be considered and the need for caution
in recommending surgery. Watchful waiting may often be the best
management for acoustic neuromas in neurofibromatosis 2.
14
UI - 2119939
AU - Andersen LB; Tommerup N; Koch J
TI -
Formation of a minichromosome by excision of the proximal region of 17q
in a patient with von Recklinghausen neurofibromatosis.
SO - Cytogenet Cell Genet 1990;53(4):206-10
AD - Institute of Medical Genetics, University of Copenhagen, Denmark.
An interstitial deletion, 17cen----q11.2 (or q12), and a small extra
chromosome was found in a sporadic case of von Recklinghausen
neurofibromatosis (NF1). In situ hybridization with a chromosome
17-specific alpha-satellite probe showed that the small chromosome was
derived from the deleted region, most likely by an excision/ring
formation. This chromosome rearrangement is in agreement with the
localization of the von Recklinghausen neurofibromatosis (NF1) locus to
the proximal region of 17q, but with a more distal breakpoint than
observed in two previously described reciprocal translocations
associated with NF1. If the NF1 gene has been truncated by the present
rearrangement, it may suggest that the NF1 gene is a very large gene at
the genomic level. Alternatively, NF1 in this patient may be caused by
the gradual loss in somatic cells of the small chromosome carrying an
intact NF1 gene, thereby suggesting a recessive mechanism at the gene
level. Finally, an intact NF1 gene may have been placed in close
proximity with alpha-satellite sequences, which might cause inactivation
of the gene. The small supernumerary chromosome may not only facilitate
the cloning of the NF1 gene itself, but also offers explanations of the
mechanism underlying development of the disease.
15
UI - 1903909
AU - O'Connell P; Cawthon RM; Viskochil D; White R; Carey JC; Buchberg AM
TI -
The NF1 translocation breakpoint region.
SO - Ann N Y Acad Sci 1991;615():319-31
AD - Howard Hughes Medical Institute, University of Utah Health Sciences
Center, Salt Lake City 84132.
The genetic locus that harbors mutation(s) responsible for
neurofibromatosis type 1 (NF1) is on chromosome 17, within band q11.2.
We have mapped the human homologue of a murine gene (Evi-2) that is
implicated in myeloid tumors, to a location between two NF1
translocation breakpoints on chromosome 17. Sequencing studies predict
that EVI2 is a membrane protein that may complex with itself and/or
other proteins within the membrane, perhaps to function as part of a
cell-surface receptor. In the course of these studies we have also
identified three other transcripts (classes of cDNAs) from the NF1
region. Two of them map between the NF1 translocation breakpoints; the
remaining transcript maps just outside this region. The map location
implicates these four genes as possible candidates for harboring NF1
mutations.
16
UI - 1723132
AU - Chan LC; Kwong YL; Ha SY
TI -
Neurofibromatosis and increased risk of leukaemia--is the G-CSF gene
involved?
SO - Leukemia 1991 Dec;5(12):1113-4
AD - Department of Pathology, Queen Mary Hospital, University of Hong Kong.
17
UI - 1424240
AU - Tommerup N; Warburg M; Gieselmann V; Hansen BR; Koch J; Petersen GB
TI -
Ring chromosome 22 and neurofibromatosis.
SO - Clin Genet 1992 Oct;42(4):171-7
AD - Danish Center for Human Genome Research, Glostrup.
Variable constitutional mosaicism,
mos45,XY,-22/46,XY,-22,+mar/46,XY,-22,+r(22)/47,XY,-22,+r(22)+mar/ 47,
XY,-22,+r(22)*2, was found in PHA-stimulated peripheral blood, in a
lymphoblastoid cell line and in cultured skin fibroblasts from a
mentally retarded patient with neurofibromatosis. Both the ring
chromosome and the small extra marker chromosome stained positively by
in situ hybridization with a chromosome 14/22-specific alphoid repeat
probe. DNA dosage analysis showed constitutional loss of one copy of the
arylsulfatase A gene (ARSA), consistent with its terminal location on
22q. There was no evidence of constitutional loss of D22S1 or D22S28
which flank the neurofibromatosis type 2 (NF2) locus. Analysis of two
DNA samples from a skin neurofibroma indicated retainment of two copies
of D22S1, whereas the results were ambiguous with respect to
tumor-specific loss of one copy of D22S28. It is suggested that the
development of neurofibromatosis of unclear type in two r(22) carriers
might be associated with somatic mutation of the NF2 locus due to
instability of the ring chromosome(s), and in analogy, that somatic
mutation of either NF1 or NF2 may account for some cases of
neurofibromatosis which do not meet the criteria of either NF1 or NF2.
The occurrence of seminoma in the proband may be fortuitous, but could
also be due to the presence of a seminoma-associated locus on chromosome
22.
18
UI - 8418653
AU - Wiktor A; Van Dyke DL; Weiss L
TI -
Characterization of a de novo 48,XX,+r(X),+r(17) by in situ
hybridization in a patient with neurofibromatosis (NF1).
SO - Am J Med Genet 1993 Jan 1;45(1):22-4
AD - Medical Genetics and Birth Defects Center, Henry Ford Hospital, Detroit,
Michigan 48202.
We describe a patient with familial neurofibromatosis (NF1), short
stature, developmental delay, and a de novo chromosome abnormality. In
situ hybridization was done using chromosome specific centromere probes
to characterize the karyotype as 46,XX/47, XX,+r(X)
(p11q11)/47,XX,+r(17) (p11q11)/48, XX,+r(X) (p11q11),+r(17) (p11q11).
The NF1 mutation, as well as each supernumerary ring chromosome, may
have played a role in perturbing the normal developmental process of
this patient.
19
UI - 8453669
AU - Trofatter JA; MacCollin MM; Rutter JL; Murrell JR; Duyao MP; Parry DM;
TI -
Eldridge R; Kley N; Menon AG; Pulaski K; et al
A novel moesin-, ezrin-, radixin-like gene is a candidate for the
neurofibromatosis 2 tumor suppressor.
SO - Cell 1993 Mar 12;72(5):791-800
AD - Molecular Neurogenetics Unit, Massachusetts General Hospital,
Charlestown.
Neurofibromatosis 2 (NF2) is a dominantly inherited disorder
characterized by the occurrence of bilateral vestibular schwannomas and
other central nervous system tumors including multiple meningiomas.
Genetic linkage studies and investigations of both sporadic and familial
tumors suggest that NF2 is caused by inactivation of a tumor suppressor
gene in chromosome 22q12. We have identified a candidate gene for the
NF2 tumor suppressor that has suffered nonoverlapping deletions in DNA
from two independent NF2 families and alterations in meningiomas from
two unrelated NF2 patients. The candidate gene encodes a 587 amino acid
protein with striking similarity to several members of a family of
proteins proposed to link cytoskeletal components with proteins in the
cell membrane. The NF2 gene may therefore constitute a novel class of
tumor suppressor gene.
20
UI - 8374240
AU - Mautner VF; Hazim W; Guthoff R
TI -
[Ophthalmologic differentiation of various forms of neurofibromatosis]
SO - Ophthalmologe 1993 Aug;90(4):391-3
AD - Neurologische Klinik, Allgemeines Krankenhaus Hamburg-Ochsenzoll.
Neurofibromatosis (NF) is one of the most frequent autosomal-dominant
hereditary disorders. The molecular-genetic differentiation of NF 1 and
NF 2 has important implications for the ophthalmologist. Among 80
patients with NF 1, Lisch nodules were diagnosed in 83% as typical
criteria for the disease. In 6 patients who did not meet the NIH
criteria for NF 1 and NF 2, the ophthalmological investigation showed no
cataracts or Lisch nodules; thus, the ophthalmological examination can
help to confirm a subtype of NF. In 8 out of 22 NF 2 patients a juvenile
posterior subcapsular cataract was diagnosed. Our examination
demonstrates that the diagnostic value of lens opacities in NF 2
patients--especially for early detection of the disease--must be
clarified, especially with regard to the fact that there were no
patients with incipient cataract and no neuroradiological criteria for
the disease.
21
UI - 8228036
AU - Martinez-Lage JF; Poza M; Rodriguez Costa T
TI -
Bilateral temporal arachnoid cysts in neurofibromatosis.
SO - J Child Neurol 1993 Oct;8(4):383-5
AD - Regional Service of Neurosurgery, Virgen de Arrixaca University
Hospital, Murcia, Spain.
The occurrence of bilateral temporal arachnoid cysts has been considered
as a rare event. Unilateral arachnoid pouches have been reported in a
few instances associated with neurofibromatosis. The authors describe a
5-year-old girl with bilateral temporal arachnoid cysts who presented
obvious stigmata of van Recklinghausen's disease. To the best of our
knowledge, this is the first time that this association has been
described in the literature.
22
UI - 8228039
AU - North K
TI -
Neurofibromatosis type 1: review of the first 200 patients in an
Australian clinic.
SO - J Child Neurol 1993 Oct;8(4):395-402
AD - Department of Neurology, Children's Hospital, Camperdown, Sydney,
Australia.
Neurofibromatosis type 1 is a common multisystem disorder, best managed
in a multidisciplinary clinic. In 1991, the first Australian
neurofibromatosis clinic was established at the Children's Hospital,
Camperdown, and the clinical characteristics of the first 150 families
are reviewed. Two hundred individuals were assessed; there was an equal
sex distribution, and 55% of cases were sporadic. Advanced paternal age
appeared to predispose to new mutations in the neurofibromatosis gene.
Cafe-au-lait spots and axillary freckling were important to the
diagnosis of neurofibromatosis type 1 during childhood, and
neurofibromas and Lisch nodules, although often not appearing until
after puberty, were present in almost all patients over 30 years of age.
Short stature (27%), macrocephaly (43%), scoliosis (20.5%), and learning
disabilities (45%) were common associated features. The prevalence of
disease complications was similar to the major US and European studies.
23
UI - 6785855
AU - Loly J
TI -
[Von Recklinghausen's disease. Pathogenesis]
SO - Rev Med Liege 1981 Jan 1;36(1):28-35
24
UI - 6786088
AU - Jennings MT; Bird TD
TI -
Genetic influences in the epilepsies. Review of the literature with
practical implications.
SO - Am J Dis Child 1981 May;135(5):450-7
We review hereditary influences in the epilepsies from the perspective
of medical genetics. The recurrence risk for epilepsy in close relatives
may vary from 2% to 5% up to 50% depending on the etiology of the
seizure disorder in the proband. We emphasize the identification of
specific disorders with single-gene inheritance that will lead to useful
conclusions regarding treatment, prognosis, and family counseling. Also
discussed are chromosomal aberrations, polygenic inheritance,
gene-environment interactions, animal models of epilepsy, and the
pharmacogenetics of anticonvulsants.
25
UI - 6803740
AU - Moore BC; Luce J
TI -
The many faces of neurofibromatosis.
SO - Ariz Med 1982 Feb;39(2):99-102
26
UI - 3938679
AU - Witkop CJ Jr
TI -
Inherited disorders of pigmentation.
SO - Clin Dermatol 1985 Jan-Mar;3(1):70-134
27
UI - 3084711
AU - Battersby RD; Ironside JW; Maltby EL
TI -
Inherited multiple meningiomas: a clinical, pathological and cytogenetic
study of an affected family.
SO - J Neurol Neurosurg Psychiatry 1986 Apr;49(4):362-8
The clinical features of a family with inherited multiple meningiomas as
the major manifestation of neurofibromatosis are presented. The value of
noninvasive radiological screening investigations is emphasised. The
results of cytogenetic and pathological studies on the family are
presented and discussed with a review of the relevant literature.
28
UI - 3119309
AU - Seizinger BR; Martuza RL; Rouleau G; Breakefield XO; Gusella JF
TI -
Models for inherited susceptibility to cancer in the nervous system: a
molecular-genetic approach to neurofibromatosis.
SO - Dev Neurosci 1987;9(3):144-53
AD - Neurogenetics Laboratory, Massachusetts General Hospital, Boston.
Neurofibromatosis (NF) is one of the most frequent and clinically
important Mendelian disorders in man, with an incidence of 1 in 3,000.
While different organ systems and cell types can be affected in NF, the
most common abnormalities are in cells of neural crest origin. Two
distinct forms of NF have been described: 'peripheral' or von
Recklinghausen NF (VRNF) and 'central' or bilateral acoustic NF (BANF).
VRNF is characterized clinically by hyperpigmented patches of skin and
multiple tumors of the peripheral and central nervous system, which can
cause disfigurement, paralysis, blindness and death. In comparison, BANF
is characterized by the bilateral occurrence of acoustic neurinomas
(Schwann cell-derived tumors of the 8th cranial nerve) and increased
susceptibility to certain other nervous system tumors, including
meningiomas and gliomas. These tumors can lead to deafness and other
serious neurological morbidity and mortality within the first few
decades of life. The primary biochemical defects in both forms of NF is
not yet known, but is of great fundamental interest in view of the
potential role of these genes in controlling proliferation and
differentiation of neural crest cells. Here we discuss different
molecular-genetic approaches towards identifying these defective genes.
In particular, our studies on tumors associated with BANF have
specifically implicated chromosome 22 as the location of the gene defect
causing this serious neurological disorder. The identification and
characterization of the NF genes, based on their chromosomal
localizations, will have profound implications for diagnosis and
treatment of these diseases and might yield significant insights into
mechanisms controlling development and differentiation of the human
nervous system.
29
UI - 3105404
AU - Carey JC; Baty BJ; Johnson JP; Morrison T; Skolnick M; Kivlin J
TI -
The genetic aspects of neurofibromatosis.
SO - Ann N Y Acad Sci 1986;486():45-56
Although the genetic pattern in NF has been definitely established as
autosomal dominant, more precise data regarding penetrance, natural
history, prevalence, and heterogeneity are needed for the counseling of
families. NF is the prototypic disorder for the study of the biologic
mechanisms of variable expressivity. The widely cited prevalence figure
of Crowe is probably too high; thus the mutation ratio estimation in NF
is among the highest in man but close to other common Mendelian
disorders. With the existing data on frequency of Lisch nodules and with
future prospective date on cafe-au-lait spot development, an
age-of-onset penetrance curve for NF could be constructed for genetic
counseling purposes. The segmental form of NF is of interest as cases of
this presentation may be helpful in studying the hypothesis of human
somatic mutation when DNA analysis is available. Guidelines for routine
evaluation and ongoing health supervision of individuals with
neurofibromatosis need to be developed; multidisciplinary NF clinics and
collaborative study groups are appropriate settings for this
undertaking. Neurofibromatosis is an important disorder for the study of
the psychodynamic processes that families experience in dealing with
uncertainty.
30
UI - 3149475
AU - Gray J; Swaiman KF
TI -
Brain tumors in children with neurofibromatosis: computed tomography and
magnetic resonance imaging.
SO - Pediatr Neurol 1987 Nov-Dec;3(6):335-41
AD - Division of Pediatric Neurology, University of Minnesota Medical School,
Minneapolis 55455.
Comparisons were made between the results of computed tomography and
magnetic resonance imaging (MRI) evaluations in 13 patients with
neurofibromatosis. In 8 of 9 patients with intracranial tumors and in 2
of 4 patients without intracranial tumors additional findings were
demonstrated by MRI.
31
UI - 6437664
AU - Kao YS; Kao-Shan CS; Knutsen T; Whang-Peng J; Mulvihill JJ
TI -
Neurofibromatosis: no chromosomal defect by prophase banding technique.
SO - Cancer Genet Cytogenet 1984 Nov;13(3):281-2
32
UI - 6441040
AU - Takahashi K; Hashimoto Y; Hashimoto S
TI -
[A case of familial extra small chromosomes]
SO - Rinsho Byori 1984 Nov;32(11):1215-20
33
UI - 6239015
AU - Simpson JM
TI -
Neurological disorders with autosomal dominant transmission.
SO - J Neurosurg Nurs 1984 Oct;16(5):262-9
Neurofibromatosis, Huntington's disease, and myotonic dystrophy are
three hereditary disorders affecting the nervous system. They have in
common the basic principles of autosomal dominant inheritance: an
affected individual has one parent with the disorder; the disorder
affects males and females in approximately equal numbers; and an
affected individual has a 50 percent risk of transmitting the disorder
to every child. Furthermore, each of the three disorders have additional
features that complicate genetic counseling and decisions about
reproduction. Neurofibromatosis has an extremely variable expressivity,
making the identification of affected individuals difficult and allowing
for some reduction in the risk figures; although there is a 50 percent
risk of a child inheriting the mutant gene, only one-fourth to one-third
of these will experience serious consequences. Huntington's disease has
a fairly typical course with degeneration occurring over 10 to 20 years.
The frequent late onset of the disorder and the lack of any preclinical
test for detecting carriers create problems for those at risk who wish
to have children but do not want to pass the disorder to future
generations. Both variable expressivity and variable onset are found in
myotonic dystrophy. In addition, there is a risk of the severe early
onset myotonic dystrophy when the mother is the affected parent. Genetic
counseling should be available to patients and families with these three
disorders. Nurses who have an understanding of the dynamics of these
particular disorders can be empathetic to patients who face personal and
family problems caused by the conditions. Alert nursing staff, in casual
discussion with patients, may learn of hereditary disorders in a family
or may notice symptoms that could lead to diagnosis of one of these
disorders. Finally, nurses who are aware of the variations in genetic
transmission of these disorders, may be in position to instruct and
reinforce genetic counseling that the family has received.
34
UI - 2491896
AU - Kaneko Y; Maseki N; Sakurai M; Shibuya A; Shinohara T; Fujimoto T; Kanno
TI -
H; Nishikawa A
Chromosome pattern in juvenile chronic myelogenous leukemia,
myelodysplastic syndrome, and acute leukemia associated with
neurofibromatosis.
SO - Leukemia 1989 Jan;3(1):36-41
AD - Department of Laboratory Medicine, Saitama Cancer Center, Japan.
We studied chromosomes of BM cells from four neurofibromatosis (NF)
patients with leukemia. One patient had a normal diploid karyotype in
the chronic phase of juvenile chronic myelogenous leukemia (JCML). When
the the leukemia evolved into the accelerated phase, she had cells with
46,XX,-7,+der(7)t(3;7)(q21;p22); the abnormalities resulted in a partial
7p deletion. In another patient with JCML, BM cells in the accelerated
phase had 45,XY,-7. The abnormal cells with monosomy 7 disappeared from
the BM after chemotherapy but reappeared later in the course. Another
patient developed refractory anemia with excess of blasts in
transformation (RAEB-T) and had cells with 46,XX,-6,+r(6)(p23?q21?); the
abnormalities resulted in partial 6p and 6q deletions. The other patient
with ANLL had cells with 45,XX,-7. Our findings and review of data on
nine other patients suggest that BM cells of NF patients with JCML in
chronic phase have no microscopically detectable chromosome changes and
that cells with chromosomal deletion emerge when JCML evolve into the
accelerated or blast phase. Thus, deletion of the whole or part of
certain chromosomes, such as chromosomes 6, 7, etc., may be an important
step towards the evolution of JCML cells or the development of de novo
acute leukemias in NF patients.
35
UI - 7811422
AU - Legius E; Descheemaeker MJ; Fryns JP; Van den Berghe H
TI -
Neurofibromatosis type 1.
SO - Genet Couns 1994;5(3):225-41
AD - Center for Human Genetics, University of Leuven, Belgium.
The authors review the present data on the clinical and molecular
aspects of neurofibromatosis type 1 (NF1). In the clinical part
attention is given to the frequent observation of learning disabilities
in NF1 children. In these children visual-spatial integration deficits
and an increased incidence of school performance problems are observed.
The NF1 gene is located on chromosome 17 (17q11.2), and is highly
conserved across species. Up to now only a limited number of mutations
in this gene have been characterized, and this shows a general lack of
genotype-phenotype correlation. Evidence is given that the NF1 gene acts
as a true tumor suppressor gene and that oncogenesis in NF1 is a complex
multistep phenomenon with the second hit in the NF1 gene as the
initiating event. The importance of specialized multidisciplinary
outpatient clinics for neurofibromatosis is emphasized because of the
complexity of follow-up and treatment of these patients.
36
UI - 7696678
AU - Pikus AT
TI -
Pediatric audiologic profile in type 1 and type 2 neurofibromatosis.
SO - J Am Acad Audiol 1995 Jan;6(1):54-62
AD - Neuro-Otology Branch, National Institute on Deafness and Other
Communication Disorders, National Institutes of Health, Bethesda,
Maryland.
The neurofibromatoses with two subclasses known as NF1 and NF2 are two
genetically distinct, autosomal dominantly inherited conditions with
significant ramifications in the human auditory system. NF1 is a
multisystem progressive disorder that can frequently involve portions of
the auditory system in diverse and subtle ways and in which no
characteristic audiologic findings can be discerned. NF2 is
characterized by the presence of bilateral vestibular schwannomas,
sometimes associated with multiple intracranial and spinal tumors. In 43
children with NF1, significant auditory system involvement was found by
pure-tone, immittance, and auditory brainstem response (ABR) evaluation.
Indications are that audiologists need to contribute to the diagnosis
and management in this condition. In 13 children with NF2, handicapping
hearing loss was not the primary or usual presenting symptom. However,
current findings suggest that ABR and acoustic reflex studies are always
indicated in the pediatric NF2 population and are as valid and
significant as in adults with NF2.
37
UI - 7718870
AU - Luna-Fineman S; Shannon KM; Lange BJ
TI -
Childhood monosomy 7: epidemiology, biology, and mechanistic
implications.
SO - Blood 1995 Apr 15;85(8):1985-99
AD - Department of Pediatrics, University of California, San Francisco
94143-0724, USA.
38
UI - 7619195
AU - Leao M; da Silva ML
TI -
Evidence of central nervous system involvement in Watson syndrome.
SO - Pediatr Neurol 1995 Apr;12(3):252-4
AD - Department of Neurology and Neurosurgery, Hospital de S. Joao, Porto,
Portugal.
In 1967, Watson described 3 families with an autosomal dominant
condition characterized by pulmonary valvular stenosis, cafe-au-lait
sports, and short stature. Presumed hamartomatous lesions have been
observed in neurofibromatosis type I, but they were not reported to date
in Watson syndrome. We report another family with Watson syndrome, in
which 1 patient manifested increased intensity T2-weighted lesions on
magnetic resonance imaging similar to those occurring in
neurofibromatosis type I and possibly hamartomas. This finding
demonstrates the overlap between neurofibromatosis type I and Watson
syndrome and supports the hypothesis that those conditions are allelic
or, less likely, that the gene that determines the Watson phenotype is
very closely linked to the neurofibromatosis type I locus.
39
UI - 7479890
AU - Knudson A
TI -
Asbestos and mesothelioma: genetic lessons from a tragedy.
SO - Proc Natl Acad Sci U S A 1995 Nov 21;92(24):10819-20
AD - Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA
19111, USA.
40
UI - 7497307
AU - Bauer MS
TI -
[Neurofibromatosis]
SO - Rev Neurol 1995;23 Suppl 3():S322-4
AD - Centro de Neurofibromatosis, Miami Children's Hospital, Florida, USA.
41
UI - 8559307
AU - Ng HK; Lau KM; Tse JY; Lo KW; Wong JH; Poon WS; Huang DP
TI -
Combined molecular genetic studies of chromosome 22q and the
neurofibromatosis type 2 gene in central nervous system tumors.
SO - Neurosurgery 1995 Oct;37(4):764-73
AD - Department of Anatomical & Cellular Pathology, Chinese University of
Hong Kong, Hong Kong.
Monosomy of chromosome 22 or deletions of 22q have been described in
meningiomas and astrocytic tumors, the incidence of which is increased
in Type 2 neurofibromatosis. Recently, the gene for neurofibromatosis
Type 2 (NF2) has been identified at Chromosome 22q12, and a tumor
suppression role has been suggested. Because there have been only a few
studies of the NF2 gene on central nervous system tumors other than
vestibular schwannomas, we investigated the potential role of NF2 as a
tumor suppressor gene in a group of sporadic meningiomas and
astrocytomas. Forty-four tumors (26 meningiomas and 18 astrocytic tumors
of different grades) were screened for NF2 mutations for the
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