Germline screening of the NF-2 gene in families with unilateral vestibular schwannoma.
Vestibular schwannoma may present clinically in two forms: sporadic unilateral or hereditary bilateral. Familial transmission of vestibular schwannoma is known to occur only in neurofibromatosis type II (NF-2). We have previously described the clinical characteristics of unilateral vestibular schwannoma presenting in families, in the absence of ther criteria necessary for the diagnosis of NF-2. Polymerase chain reaction-single strand chain polymorphism was used to screen for germline NF-2 gene mutations in six families with unilateral vestibular schwannoma. Direct sequencing of DNA from blood was done in affected subjects from three families. No germline mutations were identified. Because NF-2 gene mutations are detected in only 33% of patients with NF-2, hereditary transmission of mutations cannot be entirely excluded. However, in the absence of germline mutations in the NF-2 gene, familial occurrence of unilateral vestibular schwannoma more likely represents either a chance somatic NF-2 gene mutation or originates from a separate genetic loci.
Laboratory of Molecular Otology, University of California at San Francisco, 94143-0526, USA.
P H
PH
Bikhazi
A K
AK
Lalwani
E J
EJ
Kim
N
N
Bikhazi
A
A
Attaie
W H
WH
Slattery
R K
RK
Jackler
D E
DE
Brackmann
D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D016515:Genes, Neurofibromatosis 2 / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D015894:Genome, Human; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D009464:Neuroma, Acoustic / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational