Article
A germline missense mutation in COQ6 is associated with susceptibility to familial schwannomatosis.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2014
Zhang Keqiang, Lin Jia-Wei, Wang Jinhui, Wu Xiwei, Gao Hanlin, Hsieh Yi-Chen, Hwu Peter, Liu Yun-Ru, Su Leila, Chiou Hung-Yi, Wang Daidong, Yuan Yate-Ching, Whang-Peng Jacqueline, Chiu Wen-Ta, Yen Yun
Abstract excerpt
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...
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