Article
Mitochondrial ND5 T12338C, tRNA(Cys) T5802C, and tRNA(Thr) G15927A variants may have a modifying role in the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in three Han Chinese pedigrees.
American journal of medical genetics. Part A - 15 May 2008
Chen Bobei, Sun Dongmei, Yang Li, Zhang Chuqin, Yang Aifen, Zhu Yi, Zhao Jianyue, Chen Yingying, Guan Minqiang, Wang Xinjian, Li Ronghua, Tang Xiaowen, Wang Jindan, Tao Zhihua, Lu Jianxin, Guan Min-Xin
Abstract excerpt
We report here on the clinical, genetic, and molecular characterization of three Han Chinese pedigrees with aminoglycoside-induced and nonsyndromic hearing loss. Clinical evaluation revealed the variable phenotype of hearing impairment including severity, age-at-onset, audiometric configuration in these subjects. The penetrance of hearing loss in WZD8, WZD9, and WZD10 pedigrees were 46%, 46%, and 50%,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.