×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
GeneticVariation
disease
BEFREE
A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.
30556268
2019
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
GeneticVariation
disease
BEFREE
Variants of KCNQ4 are one of the most common causes of dominantly inherited nonsyndromic hearing loss .
31028865
2019
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
GeneticVariation
disease
BEFREE
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss .
30413759
2018
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
BEFREE
Once the <i>KCNQ4</i> pathogenic variant has been identified in a family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis for DFNA2 nonsyndromic hearing loss are possible.
29739174
2018
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
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.
28340560
2017
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.
26036578
2015
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.
25116015
2014
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
A Japanese family showing high-frequency hearing loss with KCNQ4 and TECTA mutations.
24655070
2014
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
Kcnq1-5 (Kv7.1-5) potassium channel expression in the adult zebrafish.
24555524
2014
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
GeneticVariation
disease
BEFREE
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
23717403
2013
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
In conclusion, KCNQ4 mutations are frequent among ADNSHL patients, and therefore screening of the gene and molecular confirmation of these mutations have become important in the diagnosis of these conditions.
23717403
2013
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss.
23750663
2013
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.
18941426
2008
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
GeneticVariation
disease
BEFREE
We present data of mutation analysis of KCNQ4 from 185 unrelated Taiwanese probands with nonsyndromic hearing loss .
17033161
2007
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
16596322
2006
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
Mice with altered KCNQ4 K+ channels implicate sensory outer hair cells in human progressive deafness.
16437162
2006
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
GeneticVariation
disease
BEFREE
Several different mutations in the KCNQ4 K+ channel gene are responsible for autosomal dominant nonsyndromic hearing impairment (DFNA2 ).
12112653
2002
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
Longitudinal gradients of KCNQ4 expression in spiral ganglion and cochlear hair cells correlate with progressive hearing loss in DFNA2.
11042367
2000
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
GeneticVariation
disease
BEFREE
The DFNA2 locus for autosomal dominant nonsyndromic hearing impairment on chromosome 1p34 contains at least 2 genes responsible for hearing loss, GJB3 and KCNQ4.
10925378
2000
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
GeneticVariation
disease
BEFREE
Mutation analysis of KCNQ4 was also performed on 80 unrelated probands from families with recessive or dominant nonsyndromic hearing loss .
10571947
1999
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
10025409
1999
×
Entrez Id:
9132
Gene Symbol:
KCNQ4
KCNQ4
0.390
Biomarker
disease
CLINGEN
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
10369879
1999