Robert K. Jackler, MD

Publication Details

  • Germline screening of the NF-2 gene in families with unilateral vestibular schwannoma OTOLARYNGOLOGY-HEAD AND NECK SURGERY Bikhazi, P. H., Lalwani, A. K., Kim, E. J., Bikhazi, M., Attaie, L., Slattery, W. H., Jackler, R. K., Brackmann, D. E. 1998; 119 (1): 1-6


    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.

    View details for Web of Science ID 000074822600001

    View details for PubMedID 9674507

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