Article
SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.
Human molecular genetics - 15 Jan 2017
Ma Zhaoxin, Xia Wenjun, Liu Fei, Ma Jing, Sun Shaoyang, Zhang Jin, Jiang Nan, Wang Xu, Hu Jiongjiong, Ma Duan
Abstract excerpt
Clinical, genetic, and functional investigations were performed to identify the causative mutation in a distinctive Chinese family with postlingual non-syndromic mid-frequency sensorineural hearing loss. Whole-exome sequencing revealed SLC44A4, which encodes the choline transport protein, as the pathogenic gene in this family. In the zebrafish model, downregulation of slc44a4 using morpholinos led to significant...
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