Gene: SLC26A4-AS1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: SLC26A4

Alternate names for this Gene: DFNB4|EVA|PDS|TDH2B

Gene Summary: Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3' of the SLC26A3 gene. The encoded protein has homology to sulfate transporters.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.3

Description of this Gene: solute carrier family 26 member 4

Type of Gene: protein-coding

rs1554352676 in SLC26A4-AS1;SLC26A4 gene and DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT PMID 24599119 2014 Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

PMID 17851929 2007 Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations.

PMID 10700480 2000 Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.

PMID 27771369 2017 Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.

PMID 28281779 2017 Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

PMID 24051746 2013 Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.

PMID 9500541 1998 A mutation in PDS causes non-syndromic recessive deafness.

PMID 11748854 2001 Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

PMID 14679580 2004 Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.

PMID 12676893 2003 Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

PMID 19204907 2009 Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

PMID 14508505 2003 Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

PMID 20108392 2010 Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive.

PMID 20597900 2010 Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).

PMID 10190331 1999 Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.

rs1219724284 in SLC26A4-AS1;SLC26A4 gene and Pendred's syndrome PMID 11375792 2001 Clinical and molecular analysis of three Mexican families with Pendred's syndrome.

PMID 14679580 2004 Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.

PMID 12788906 2003 Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.

PMID 9618166 1998 Two frequent missense mutations in Pendred syndrome.

PMID 12974744 2003 Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.

PMID 9398842 1997 Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

PMID 15531480 2004 Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.

PMID 11932316 2002 Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.

PMID 19204907 2009 Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

PMID 15355436 2004 Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.

PMID 15689455 2005 SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.

PMID 11748854 2001 Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

PMID 11317356 2001 Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

PMID 10602116 2000 Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.

PMID 10878664 2000 Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2 35delG mutation and indication for a new DFNB locus.

PMID 11919333 2002 Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.

PMID 9618167 1998 Molecular analysis of the PDS gene in Pendred syndrome.

PMID 10718825 2000 A novel mutation in the pendrin gene associated with Pendred's syndrome.

PMID 27792752 2016 Application of SNPscan in Genetic Screening for Common Hearing Loss Genes.

PMID 25372295 2014 KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

PMID 17718863 2007 A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.

PMID 17443271 2007 Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

PMID 12676893 2003 Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

PMID 20842945 2010 [An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China].

PMID 19287372 2009 As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis.

PMID 29196752 2017 Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.

PMID 26969326 2016 Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

PMID 12112665 2002 Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

PMID 16482981 2005 Pendred syndrome: study of three families.

PMID 16283880 2005 Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.