Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis.

Meng Li Lingyun MeiChufeng HeHongsheng ChenXinzhang CaiYalan LiuRunyi TianQi TianJian SongLu JiangChang LiuHong WuTaoxi LiJing LiuXiman LiYifang YiDenise YanSusan H BlantonZhengmao HuXuezhong LiuJiada LiJie Ling Yong Feng

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

Stepwise genetic analysis is efficient to analyze the genetic etiology of NSHL. Variants in ABCC1 are linked with NSHL and suggest an important role of extruding pumps in maintaining cochlea function.

Keyphrases

hearing loss
copy number
genome wide
dna methylation