Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.

Human genetics - 1 Feb 2008

Mencía Angeles, González-Nieto Daniel, Modamio-Høybjør Silvia, Etxeberría Ainhoa, Aránguez Gracia, Salvador Nieves, Del Castillo Ignacio, Villarroel Alvaro, Moreno Felipe, Barrio Luis, Moreno-Pelayo Miguel Angel

Abstract excerpt

Mutations in the potassium channel gene KCNQ4 underlie DFNA2, a subtype of autosomal dominant progressive, high-frequency hearing loss. Based on a phenotype-guided mutational screening we have identified a novel mutation c.886G>A, leading to the p.G296S substitution in the pore region of KCNQ4 channel. The possible impact of this mutation on total KCNQ4 protein expression, relative surface expression and channel...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 3T3 Cells
Share to Blotting, Western

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cell Membrane

Share to Deafness

Share to Ion Channel Gating

Share to KCNQ Potassium Channels

Share to Patch-Clamp Techniques

Share to Xenopus laevis

Source

Identifiers

PMID: 18030493
DOI: 10.1007/s00439-007-0447-7

Genes

KCNQ4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel KCNQ4 pore-region mutation (p.G296S) causes deafness by impairing cell-surface channel expression.PMID 18030493Read ↗

Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss.Semantic proximity Read ↗

Molecular basis and restoration of function deficiencies of Kv7.4 variants associated with inherited hearing loss.Semantic proximity Read ↗

Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss.Semantic proximity Read ↗

A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.Semantic proximity Read ↗

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.Semantic proximity Read ↗

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.Semantic proximity Read ↗

Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

KCNQ4 mutations associated with nonsyndromic progressive sensorineural hearing loss.Semantic proximity Read ↗

Functionally Aberrant Mutant KCNQ1 With Intermediate Heterozygous and Homozygous Phenotypes.Semantic proximity Read ↗

Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.Semantic proximity Read ↗

A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome.Semantic proximity Read ↗

Deficient membrane integration of the novel p.N14D-GJB2 mutant associated with non-syndromic hearing impairment.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.