A novel de novo mutation of ACTG1 in two sporadic non-syndromic hearing loss cases  

作　　者：Hongyang Wang Jing Guan Lan Lan Lan Yu Linyi Xie Xu Liu Ju Yang Cui Zhao Dayong Wang Qiuju Wang 

机构地区：[1]Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Medical School of Chinese PLA, Beijing 100853, China [2]Beijing Centre for Physical and Chemical Analysis, Beijing 100089, China

出　　处：《Science China(Life Sciences)》2018年第6期729-732,共4页中国科学（生命科学英文版）

基　　金：supported by the National Natural Science Foundation of China(81530032);the National Key Basic Research Program of China(2014CB943001)

摘　　要：Dear Editor,Actins are a family of essential cytoskeletal proteins involved in nearly all cellular processes（Lambrechts et al.,2004）.Of the six human genes that encode actins,only ACTG1and ACTB are ubiquitously expressed.ACTG1（OMIM#604717）,which is linked to the DFNA20/26 locus,wasidentified in autosomal dominant, non-syndromic hearing loss （NSHL） cases （Baek et al., 2012; Liu et al., 2008; Park et al., 2013; Yuan et al., 2016）. In addition, some ACTG1 （OMIM #614583） mutations are associated with Baraitser-Winter syndrome, which is characterized by developmental delay, facial dysmorphologies, brain malformations, colobomas, and variable hearing loss （Riviere et al., 2012）.Dear Editor,Actins are a family of essential cytoskeletal proteins involved in nearly all cellular processes(Lambrechts et al.,2004).Of the six human genes that encode actins,only ACTG1and ACTB are ubiquitously expressed.ACTG1(OMIM#604717),which is linked to the DFNA20/26 locus。

关 键 词：A novel de novo mutation of ACTG1 in two sporadic non-syndromic hearing loss cases 

分 类 号：R764[医药卫生—耳鼻咽喉科]