[Lv, Jingyan; Xu, Hongbo; Deng, Hao; Yang, Zhijian; Xia, Hong; Gong, Lina] Cent S Univ, Xiangya Hosp 3, Ctr Expt Med, 138 Tongzipo Rd, Changsha 410013, Hunan, Peoples R China.

[Xia, Hong] Cent S Univ, Xiangya Hosp 3, Dept Emergency, Changsha, Hunan, Peoples R China.

[Huang, Xiangjun] Hunan Univ Chinese Med, Affiliated Hosp 1, Dept Gen Surg, Changsha, Hunan, Peoples R China.

[Zhou, Yong-an] Shanxi Med Univ, Affiliated Hosp 2, Dept Blood Transfus, Taiyuan, Shanxi, Peoples R China.

[Deng, Hao] C

Cent S Univ, Xiangya Hosp 3, Ctr Expt Med, 138 Tongzipo Rd, Changsha 410013, Hunan, Peoples R China.

Abstract Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous neurosensory disorder, usually characterized by congenital or prelingual hearing loss. We report a Han Chinese male, born to consanguineous parents, presenting with nonsyndromic sensorineural hearing loss, whose clinical phenotype was also consistent with auditory neuropathy spectrum disorder (ANSD). After exome sequencing, a gap junction protein beta 2 gene (GJB2) c.235delC variant in the homozygous state was detected in the patient. Both parents were heterozygous for this variant, as documented by Sanger sequencing. The known pathogenic GJB2 c.235delC variant was not detected in 200 healthy controls. It is predicted to be a disease-causing alteration by generating a truncated protein p.(L79Cfs*3), disturbing the appropriate folding and/or oligomerization of connexins and leading to defective gap junction channels. This study shows that the association of homozygosity of the GJB2 c.235delC variant with ARNSHL and ANSD in a patient. Keywords: Auditory neuropathy spectrum disorder;exome sequencing;hearing loss;GJB2 gene;GJB2 c.235delC variant

第一中医临床学院