Germline screening of the NF-2 gene in families with unilateral vestibular schwannoma

P. H. Bikhazi, A. K. Lalwani, E. J. Kim, N. Bikhazi, A. Attaie, W. H. Slattery, R. K. Jackler, D. E. Brackmann

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10 Scopus citations


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.

Original languageEnglish
Pages (from-to)1-6
Number of pages6
JournalOtolaryngology - Head and Neck Surgery
Issue number1
StatePublished - 1998
Externally publishedYes


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