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Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix.

Abstract：

: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.

journal_name

Biochem Biophys Res Commun

journal_title

Biochemical and biophysical research communications

authors

Watabe T,Matsunaga T,Namba K,Mutai H,Inoue Y,Ogawa K

doi

10.1016/j.bbrc.2013.01.118

subject

Has Abstract

pub_date

2013-03-15 00:00:00

pages

475-9

issue

3

eissn

0006-291X

issn

1090-2104

pii

S0006-291X(13)00219-2

journal_volume

432

pub_type

杂志文章

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