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KMID : 0620920190510080099
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Experimental & Molecular Medicine
2019 Volume.51 No. 8 p.99 ~ p.99
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Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment
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Jung Jin-Sei
Lin Haiyue
Koh Young-Ik
Ryu Kun-Hi
Lee Joon-Suk
Rim John-Hoon
Choi Hye-Ji
Lee Hak-Joon
Kim Hye-Young
Yu Se-Young
Jin Hyun-Soo
Lee Ji-Hyun
Lee Min-Goo
Namkung Wan
Choi Jae-Young
Gee Heon-Yung
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Abstract
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KCNQ4 is frequently mutated in autosomal dominant non-syndromic hearing loss (NSHL), a typically late-onset, initially high-frequency loss that progresses over time (DFNA2). Most KCNQ4 mutations linked to hearing loss are clustered around the pore region of the protein and lead to loss of KCNQ4-mediated potassium currents. To understand the contribution of KCNQ4 variants to NSHL, we surveyed public databases and found 17 loss-of-function and six missense KCNQ4 variants affecting amino acids around the pore region. The missense variants have not been reported as pathogenic and are present at a low frequency (minor allele frequency?
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KEYWORD
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Genetic variation, Mechanisms of disease, Neurophysiology
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