Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas |
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| Authors: | D Bradley Welling Marco Guida Frederick Goll Dennis K Pearl Michael E Glasscock Dennis G Pappas Fred H Linthicum David Rogers T W Prior |
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| Institution: | (1) Department of Otolaryngology, The Ohio State University, Columbus, OH 43210, USA, US;(2) Department of Pathology, The Ohio State University, 121 Hamilton Hall, 1645 Neil Avenue, Columbus, OH 43210, USA Tel.: +1-614-292-5484; Fax: +1-614-292-7072, US;(3) Department of Statistics, The Ohio State University, Columbus OH 43210, USA, US;(4) The Otology Group, Nashville, Tennessee, USA, US;(5) House Ear Institute, Los Angeles, CA, USA, US |
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| Abstract: | Using a heteroduplex approach and direct sequencing, we have completed the screening of approximately 88% of the neurofibromatosis
type 2 (NF2)-coding sequence of DNA extracted from 33 schwannomas from NF2 patients and from 29 patients with sporadic schwannomas.
The extensive screening has resulted in the identification of 33 unique mutations. Similarly to other human genes, we have
shown that the CpG sites are more highly mutable in the NF2 gene. The frequency, distribution, and types of mutations were
shown to differ between the sporadic and familial tumors. The majority of the mutations resulted in protein truncation and
were consistent with more severe phenotype, however three missense mutations were identified during this study and were all
associated with milder manifestations of the disease.
Received: 25 September 1995 / Revised: 19 December 1995 |
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