hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Targeted exome sequencing further identified the causal mutations in the remaining seven families: CIB2:c.97C > T; p.(Arg33*), MYO7A:c.470+1G > A; p.(?), and SLC26A4:c.410C > T; p.(Ser137Leu) biallelic mutations in two families each, and a TECTA:c.2743 A > G; p.(Ile915Val) monoallelic mutation in the only family with autosomal dominant transmission of the HI.
|
30055715 |
2018 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.
|
30113565 |
2018 |
hearing impairment
|
0.700 |
Biomarker
|
phenotype |
CTD_human |
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.
|
29320412 |
2018 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.
|
29739340 |
2018 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.
|
27861301 |
2017 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
These results provide a genetic profile of the connexin genes and SLC26A4 gene among infants with hearing impairment detected by a universal newborn hearing screening program in Taiwan.
|
25724631 |
2015 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Recessive mutations of SLC26A4 are the major cause of hearing impairment associated with enlarged vestibular aqueduct (EVA).
|
26100058 |
2015 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the SLC26A4 gene are a common cause of human hereditary hearing impairment worldwide.
|
23755160 |
2014 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Nonsyndromic enlargement of vestibular aqueduct (NSEVA) is an autosomal recessive hearing loss disorder that is associated with mutations in SLC26A4.
|
25372295 |
2014 |
hearing impairment
|
0.700 |
Biomarker
|
phenotype |
BEFREE |
A definitive inherited hearing impairment could be confirmed in 12 (41.4%) of the 29 CI children, including 10 with GJB2-related hearing impairment and 2 with SLC26A4-related hearing impairment.
|
23477838 |
2013 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Recessive mutations in SLC26A4 and in rarer cases double heterozygous mutations of FOXI1/SLC26A4 and KCNJ10/SLC26A4 lead to hearing impairment associated with enlarged vestibular aqueduct (EVA), the most common inner ear malformation.
|
23918157 |
2013 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.
|
23185506 |
2012 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.
|
23151025 |
2012 |
hearing impairment
|
0.700 |
Biomarker
|
phenotype |
CTD_human |
Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.
|
22116360 |
2011 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Three of these patients were compound heterozygotes for disease-causing SLC26A4 mutations, confirming SLC26A4-related hearing impairment.
|
20601923 |
2010 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
In the present study, we reported the development and application of PGD protocols to address enlarged vestibular aqueduct (EVA), which is a common type of hereditary hearing impairment associated with mutations in the SLC26A4 gene.
|
20160438 |
2010 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.
|
18813951 |
2009 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Definition of the SLC26A4 mutation spectrum among different populations with sensorineural hearing loss is important for development of optimal genetic screening services for congenital hearing impairment.
|
19509082 |
2009 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
LHGDN |
The responsible genes in Japanese deafness patients and clinical application using Invader assay.
|
18368581 |
2008 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.
|
19040761 |
2008 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
LHGDN |
Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients.
|
18585793 |
2008 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations.
|
17851929 |
2007 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
LHGDN |
Genotype-phenotype correlations for SLC26A4-related deafness.
|
17690912 |
2007 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
LHGDN |
The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct.
|
17309986 |
2007 |
hearing impairment
|
0.700 |
GeneticVariation
|
phenotype |
BEFREE |
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes.
|
16684826 |
2006 |