Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH
| Autor: | Xiaodong Gu, Wenling Su, Mingliang Tang, Luo Guo, Liping Zhao, Huawei Li |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Neural Plasticity, Vol 2016 (2016) |
| Druh dokumentu: | article |
| ISSN: | 2090-5904 1687-5443 |
| DOI: | 10.1155/2016/5310192 |
| Popis: | DFNA9 is a late-onset, progressive, autosomal dominantly inherited sensorineural hearing loss with vestibular dysfunction, which is caused by mutations in the COCH (coagulation factor C homology) gene. In this study, we investigated a Chinese family segregating autosomal dominant nonsyndromic sensorineural hearing loss. We identified a missense mutation c.T275A p.V92D in the LCCL domain of COCH cosegregating with the disease and absent in 100 normal hearing controls. This mutation leads to substitution of the hydrophobic valine to an acidic amino acid aspartic acid. Our data enriched the mutation spectrum of DFNA9 and implied the importance for mutation screening of COCH in age related hearing loss with vestibular dysfunctions. |
| Databáze: | Directory of Open Access Journals |
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