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

• Published in: Otolaryngology-head and neck surgery 1998-07, Vol.119 (1), p.1-6
• Main Authors: BIKHAZI, PAUL H., LALWANI, ANIL K., KIM, EUGENE J., BIKHAZI, NADIM, ATTAIE, ALI, SLATTERY, WILLIAM H., JACKLER, ROBERT K., BRACKMANN, DERALD E.
• Format: Article
• Language: English
• Subjects: Case-Control Studies; DNA Mutational Analysis; Exons; Female; Genes, Neurofibromatosis 2 - genetics; Genetic Testing - methods; Genome, Human; Germ-Line Mutation - genetics; Humans; Male; Neuroma, Acoustic - genetics; Pedigree; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational
• ISSN: 0194-5998; 1097-6817
• DOI: 10.1016/S0194-5998(98)70166-4

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. (Otolaryngol Head Neck Surg 1998;119:1-6.)