Article: An
2018 Volume 19, Issue 5, Page(s) 370–374
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 ... ...
| 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. |
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| Language | English |
| Publishing date | 2018-07-25 |
| Publishing country | United Arab Emirates |
| Document type | Journal Article |
| ZDB-ID | 2033677-9 |
| ISSN | 1875-5488 ; 1389-2029 |
| ISSN (online) | 1875-5488 |
| ISSN | 1389-2029 |
| DOI | 10.2174/1389202919666171113152951 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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