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   Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss  
   
نویسنده Cai Xin Zhang ,Li Ying ,Xia Lu ,Peng Yu ,He Chu Feng ,Jiang Lu ,Feng Yong ,Xia Kun ,Liu Xue Zhong ,Mei Ling Yun ,Hu Zheng Mao
منبع journal of human genetics - 2017 - دوره : 62 - شماره : 2 - صفحه:317 -320
چکیده    Hearing impairment, or deafness (in its most severe form), is one of the most common human sensory disorders. there have been several reports of autosomal dominant mutations in the pou4f3 gene, which is associated with non-syndromic hearing loss. in this study, we identified a novel heterozygous mutation (c.602delt, p.l201fs) in the gene pou4f3 by taking advantage of whole-exome sequencing, which was validated by sanger sequencing and completely co-segregated within a large hearing impaired chinese family. we have focused on this pedigree since 2002, and we have mapped a deafness locus named dfna42 (which has been renamed dfna52, omim entry 607683) via a genome-wide scan. furthermore, we analyzed this mutational variant and found that it was located at the beginning of the first functional domain of pou4f3, which could theoretically impair the function of pou4f3. we have identified a novel frameshift mutation in the pou4f3 gene. further functional studies of variants of this specific gene are needed to illustrate the pathogenic mechanism(s) that underlie hearing impairment.
آدرس Central South University, Department of Otolaryngology-Head and Neck Surgery, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, Central South University, Department of Otolaryngology-Head and Neck Surgery, China, Central South University, Department of Otolaryngology-Head and Neck Surgery, China, Central South University, Department of Otolaryngology-Head and Neck Surgery, State Key Laboratory of Medical Genetics, China, Central South University, State Key Laboratory of Medical Genetics, China, University of Miami, Department of Otolaryngology-Head and Neck Surgery, USA, Central South University, Department of Otolaryngology-Head and Neck Surgery, China, Central South University, State Key Laboratory of Medical Genetics, China
 
     
   
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