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An OTOF Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder.


ABSTRACT: 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.

SUBMITTER: Xia H 

PROVIDER: S-EPMC6030853 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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An <i>OTOF</i> Frameshift Variant Associated with Auditory Neuropathy Spectrum Disorder.

Xia Hong H   Huang Xiangjun X   Xu Hongbo H   Guo Yi Y   Hu Pengzhi P   Deng Xiong X   Yang Zhijian Z   Liu An A   Deng Hao H  

Current genomics 20180801 5


<h4>Background</h4>Auditory Neuropathy Spectrum Disorder (ANSD) is manifested as impairment of auditory nerve activity but preservation of the outer hair cell function.<h4>Objective</h4>This study was to detect the disease-causing gene and variant(s) in a Chinese ANSD family.<h4>Methods</h4>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  ...[more]

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