期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 63, 期 5, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.ejmg.2020.103855
关键词
Hearing loss; SCD5; Missense mutation; Autosomal dominant; Spiral ganglion cells
资金
- National Natural Science Foundation of China [30872864, 81271083, 81470691]
- Beijing Natural Science Foundation [7172216]
We report a genetic assessment of autosomal dominant, nonsyndromic, progressive sensorineural hearing loss in a Chinese family, combining whole-exome sequencing and genome-wide linkage analysis. A novel missense mutation, c.626G > C, in the SCD5 gene was identified in this family. The heterozygous missense mutation could segregate hearing loss cases among family members, and was predicted to be deleterious by Polyphen-2, LRT and Mutation Taster. SCD5 is an endoplasmic reticulum enzyme, catalyzing the formation of monounsaturated fatty acids (MUFAs) from saturated fatty acids (SFAs). It plays a crucial role in regulating lipid metabolism. The SCD5 protein is expressed in inner and outer hair cells of the organ of Corti, the stria vascularis, cells of the lateral cochlear wall behind the spiral prominence, and more strongly in spiral ganglion cells of guinea pig and human fetal cochleas. SCD5 protein was also expressed in the brain, consistent with the hearing loss feature: the patients had a poor speech discrimination score at young age and mild hearing loss as evaluated by pure tone audiometry. In summary, we identified SCD5 as a novel gene responsible for autosomal dominant nonsyndromic deafness.
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