摘要
KCNQ4 gene mutation can lead to deafness non-syndromic autosomal dominant 2A,which is a type of autosomal dominant non-syndromic hearing loss.Deafness non-syndromic autosomal dominant 2A patients with KCNQ4 gene mutation usually present with symmetrical,delayed,progressive high-frequency-affected hearing loss,which eventually can involve all frequencies.In this article,we comprehensively reviewed the research on the role and function of KCNQ4 gene in genetic hearing loss.We discussed the pathological and physiological mechanisms of KCNQ4 gene and the related clinical phenotypes of KCNQ4 gene mutations.We also reviewed the latest developments in the treatment of KCNQ4 gene mutation-related genetic hearing loss,including selective potassium channel activation drugs and gene therapy.
基金
supported by the grants of the National Natural Science Foundation of China(Major Project No.81830028,Youths Program Nos.81900950 and 81900951).
