Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix.
Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix.
复制标题
中度听力损失与位于孔螺旋 N 末端附近的新型 KCNQ4 非截短突变相关。
DOI：
10.1016/j.bbrc.2013.01.118
复制
发表时间：
2013
影响因子：
3.1
通讯作者：
Kaoru Ogawa
中科院分区：
文献类型：
--
作者：
Takahisa Watabe,Tatsuo Matsunaga;Kazunori Namba;Hideki Mutai;Yasuhiro Inoue;Kaoru Ogawa
基因突变是特发性进行性耳聋的致病因素之一。一名迟发性、中度和高频听力损失患者被发现有一种新的杂合KCNQ4突变c.806_808delCCT，导致S5和孔螺旋（PH）之间的p.Ser260del。分子模拟分析表明，p.Ser269del突变可导致KCNQ4通道蛋白的结构畸变和静电表面电位的改变，从而可能阻碍K+的转运。本研究支持PH N端非截短突变可能与中度听力损失相关的观点。
Genetic mutation is one of the causative factors for idiopathic progressive hearing loss. A patient with late-onset, moderate, and high-frequency hearing loss was found to have a novel, heterozygous KCNQ4 mutation, c.806_808delCCT, which led to a p.Ser260del located between S5 and the pore helix (PH). Molecular modeling analysis suggested that the p.Ser269del mutation could cause structural distortion and change in the electrostatic surface potential of the KCNQ4 channel protein, which may impede K+ transport. The present study supports the idea that a non-truncating mutation around the N-terminus of PH may be related to moderate hearing loss.