【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 n KCNQ4 gene mutation usually present with symme
【机 构】
：
College of Otolaryngology-Head and Neck Surgery, Department of Audio-Vestibular Medicine, Chinese PL
论文部分内容阅读
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 n 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 n KCNQ4 gene in genetic hearing loss. We discussed the pathological and physiological mechanisms of n KCNQ4 gene and the related clinical phenotypes of n KCNQ4 gene mutations. We also reviewed the latest developments in the treatment of n KCNQ4 gene mutation-related genetic hearing loss, including selective potassium channel activation drugs and gene therapy.n “,”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 n 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 n KCNQ4 gene in genetic hearing loss. We discussed the pathological and physiological mechanisms of n KCNQ4 gene and the related clinical phenotypes of n KCNQ4 gene mutations. We also reviewed the latest developments in the treatment of n KCNQ4 gene mutation-related genetic hearing loss, including selective potassium channel activation drugs and gene therapy.n
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