Article
Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.
Annals of human genetics - 1 Nov 2014
Cheng Jing, Zhou Xueya, Lu Yu, Chen Jing, Han Bing, Zhu Yuhua, Liu Liyang, Choy Kwong-Wai, Han Dongyi, Sham Pak C, Zhang Michael Q, Zhang Xuegong, Yuan Huijun
Abstract excerpt
Autosomal dominant types of nonsyndromic hearing loss (ADNSHL) are typically postlingual in onset and progressive. High genetic heterogeneity, late onset age, and possible confounding due to nongenetic factors hinder the timely molecular diagnoses for most patients. In this study, exome sequencing was applied to investigate a large Chinese family segregating ADNSHL in which we initially failed to find strong...
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