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

Takahisa Watabe; Tatsuo Matsunaga; Kazunori Namba; Hideki Mutai; Yasuhiro Inoue; Kaoru Ogawa

doi:10.1016/j.bbrc.2013.01.118

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

Takahisa Watabe
, Tatsuo Matsunaga
, Kazunori Namba
, Hideki Mutai
, Yasuhiro Inoue
, Kaoru Ogawa

耳鼻咽喉科学

研究成果: Article › 査読

9 被引用数 (Scopus)

抄録

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.

本文言語	English
ページ（範囲）	475-479
ページ数	5
ジャーナル	Biochemical and Biophysical Research Communications
巻	432
号	3
DOI	https://doi.org/10.1016/j.bbrc.2013.01.118
出版ステータス	Published - 2013 3月 15

ASJC Scopus subject areas

生物理学
生化学
分子生物学
細胞生物学

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10.1016/j.bbrc.2013.01.118

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title = "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.",

keywords = "Dominant negative effect, Haploinsufficiency, KCNQ4, Molecular modeling, Nonsyndromic hearing loss",

author = "Takahisa Watabe and Tatsuo Matsunaga and Kazunori Namba and Hideki Mutai and Yasuhiro Inoue and Kaoru Ogawa",

note = "Funding Information: This study was supported by a Grant-in-Aid for Clinical Research from the National Hospital Organization .",

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doi = "10.1016/j.bbrc.2013.01.118",

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T1 - Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix

AU - Watabe, Takahisa

AU - Matsunaga, Tatsuo

AU - Namba, Kazunori

AU - Mutai, Hideki

AU - Inoue, Yasuhiro

AU - Ogawa, Kaoru

N1 - Funding Information: This study was supported by a Grant-in-Aid for Clinical Research from the National Hospital Organization .

PY - 2013/3/15

Y1 - 2013/3/15

N2 - 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.

AB - 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.

KW - Dominant negative effect

KW - Haploinsufficiency

KW - KCNQ4

KW - Molecular modeling

KW - Nonsyndromic hearing loss

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DO - 10.1016/j.bbrc.2013.01.118

M3 - Article

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AN - SCOPUS:84874966474

SN - 0006-291X

VL - 432

SP - 475

EP - 479

JO - Biochemical and Biophysical Research Communications

JF - Biochemical and Biophysical Research Communications

IS - 3

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

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