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An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder
Current Genomics ( IF 2.6 ) Pub Date : 2018-06-01 , DOI: 10.2174/1389202919666171113152951 Hong Xia 1, 2 , Xiangjun Huang 3 , Hongbo Xu 1 , Yi Guo 1, 4 , Pengzhi Hu 1, 5 , Xiong Deng 1 , Zhijian Yang 1 , An Liu 6 , Hao Deng 1
Current Genomics ( IF 2.6 ) Pub Date : 2018-06-01 , DOI: 10.2174/1389202919666171113152951 Hong Xia 1, 2 , Xiangjun Huang 3 , Hongbo Xu 1 , Yi Guo 1, 4 , Pengzhi Hu 1, 5 , Xiong Deng 1 , Zhijian Yang 1 , An Liu 6 , Hao Deng 1
Affiliation
Background: Auditory Neuropathy Spectrum Disorder (ANSD) is manifested as impairment of auditory nerve activity but preservation of the outer hair cell function. Objective: This study was to detect the disease-causing gene and variant(s) in a Chinese ANSD family. Methods: A four-generation consanguineous Chinese ANSD family and 200 unrelated healthy controls were enrolled. Exome sequencing and Sanger sequencing were applied to identify the genetic basis for ANSD in this family. Results: Exome sequencing detected a c.1236delC variant of the otoferlin gene in an apparently homozygous state. Sanger sequencing confirmed that the variant co-segregating with the phenotype of hearing impairments in this family. The variant was not detected in 200 healthy controls. The c.1236delC alteration may result in a truncated otoferlin missing the C2C-C2F domains and the C-terminal transmembrane domain, and thus severely damages Ca2+-dependent synaptic vesicle fusion and targeting function of the otoferlin. Conclusion: Our study suggested that the c.1236delC alteration in the otoferlin gene may be the disease-causing variant in this family, and also shed new light on genetic counseling to this ANSD family.
更新日期：2018-06-01
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