Format

Send to

Choose Destination
Hum Genet. 1996 Aug;98(2):189-93.

Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas.

Author information

1
Department of Otolaryngology, Ohio State University, Columbus 43210, USA.

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.

PMID:
8698340
DOI:
10.1007/s004390050188
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Springer
Loading ...
Support Center