Whole-Exome Sequencing Identifies a Variant inTMEM132ECausing Autosomal-Recessive Nonsyndromic Hearing Loss DFNB99

Author:

Li Jiangxia1,Zhao Xiaohan1,Xin Qian1,Shan Shan1,Jiang Baichun1,Jin Yecheng2,Yuan Huijun3,Dai Pu3,Xiao Ruo4,Zhang Qingyan4,Xiao Jingjing4,Shao Changshun1,Gong Yaoqin1,Liu Qiji1

Affiliation:

1. Key Laboratory for Experimental Teratology of the Ministry of Education and Department of Medical Genetics; Shandong University School of Medicine; Jinan Shandong 250012 China

2. School of Life Science; Shandong University; Jinan Shandong 250012 China

3. Institute of Otolaryngology; Chinese PLA General Hospital; Beijing 100853 China

4. BGI-Shenzhen; Shenzhen 518083 China

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference23 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. [Gene mapping of a nonsyndromic hearing impairmint family];Cheng;Zhonghua Yi Xue Yi Chuan Xue Za Zhi,2003

3. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness;Delmaghani;Hum Mol Genet,2012

4. Hearing loss: mechanisms revealed by genetics and cell biology;Dror;Annu Rev Genet,2009

5. TMEM132D, a new candidate for anxiety phenotypes: evidence from human and mouse studies;Erhardt;Mol Psychiatry,2011

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