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

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

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
Volume119
Issue number1
DOIs
StatePublished - 1998
Externally publishedYes

Fingerprint

Dive into the research topics of 'Germline screening of the NF-2 gene in families with unilateral vestibular schwannoma'. Together they form a unique fingerprint.

Cite this