ArticleBMC research notes2012
In silico modeling of the pore region of a KCNQ4 missense mutant from a patient with hearing loss.
Article in BMC research notes, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss.BMC research notes · 2024Article
- [The genotype-phenotype correlation analysis and genetic counseling of hearing loss patients with novelLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Article
- Precise detection of CRISPR-Cas9 editing in hair cells in the treatment of autosomal dominant hearing loss.Molecular therapy. Nucleic acids · 2022Article
- The Pathological Mechanisms of Hearing Loss Caused byBiomedicines · 2022Review
- AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss.Human genetics · 2022Article
- Advances in genome editing for genetic hearing loss.Advanced drug delivery reviews · 2021Review
- Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss.Journal of cellular and molecular medicine · 2013Article
- Distinct roles of molecular chaperones HSP90α and HSP90β in the biogenesis of KCNQ4 channels.PloS one · 2013Article
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Authors and funding
5 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundMutation of the voltage-gated potassium channel KCNQ4 causes DFNA2-type nonsyndromic autosomal dominant sensorineural hearing loss. KCNQ4 is expressed predominantly in the auditory sensory outer hair cells, which are critical for sound amplification.
resultsWe sequenced KCNQ4 from Japanese patients with sensorineural hearing loss, and identified a novel missense mutation encoding a Tyr270His located at the N-terminus of the highly conserved pore helix sequence. As this patient was not accessible to us and information about them was limited, we used molecular modeling to investigate whether this novel mutation is hypothetically pathogenic. A careful examination of an in silico structural model of the KCNQ4 pore region revealed that the Tyr270His mutation caused an alteration in the electrostatic surface potential of the pore helix.
conclusionWe propose two possible means by which the Tyr270His mutation causes hearing loss: a positively charged His270 side chain might enhance the helix dipole moment of the pore helix, thereby destabilizing the helix and/or the pore region, or it might disturb transport of K+ through the channel by electrostatic repulsion.
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