A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.

ABSTRACT:

Purpose

Schwannomatosis, a subtype of neurofibromatosis, is characterized by multiple benign, nonvestibular, nonintradermal schwannomas. Although the tumor suppressor SMARCB1 gene has been frequently identified as the underlying genetic cause of half of familial and ~10% of sporadic schwannomatosis, for most other cases, further causative genes remain to be discovered. Herein, we characterize the genome of a schwannomatosis family without constitutional inactivation of the SMARCB1 gene to explore novel genomic alterations predisposing individuals to the familial disease.

Methods

We performed whole-genome/exome sequencing on genomic DNA of both schwannomatosis-affected and normal members of the family.

Results

We identified a novel missense mutation (p.Asp208His; c.622

SUBMITTER: Zhang K 

PROVIDER: S-EPMC4189385 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature