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

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:

rs141142414 in SLC26A4;SLC26A4-AS1 gene and DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT PMID 27771369 2017 Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.

PMID 16570074 2006 SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

PMID 24105851 2014 Subgroups of enlarged vestibular aqueduct in relation to SLC26A4 mutations and hearing loss.

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

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

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

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

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

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

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

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

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

rs1057516658 in SLC26A4;SLC26A4-AS1 gene and Pendred's syndrome PMID 25372295 2014 KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

PMID 25015771 2014 Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness.

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

PMID 23336812 2013 SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.

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 9618166 1998 Two frequent missense mutations in Pendred syndrome.

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

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

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 16570074 2006 SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

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 11375792 2001 Clinical and molecular analysis of three Mexican families with Pendred's syndrome.

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

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

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 19017801 2008 Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.

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

PMID 19199245 2009 [Mutational screening of the SLC26A4 gene in patients with nonsyndromic hearing loss by denaturing high-performance liquid chromatography].

PMID 23185506 2012 Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

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

PMID 24612839 2014 Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.

PMID 25394566 2015 Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

PMID 23965030 2013 Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

PMID 21704276 2011 Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting.

PMID 24341454 2013 Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China.

PMID 24224479 2014 Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.

PMID 16914891 2006 Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity.

PMID 16791000 2006 Functional characterization of wild-type and a mutated form of SLC26A4 identified in a patient with Pendred syndrome.

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

PMID 19040761 2008 Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.

PMID 22285650 2012 Molecular and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.

PMID 15679828 2005 Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.

PMID 18310264 2008 Heterogeneity in the processing defect of SLC26A4 mutants.

PMID 19287372 2009 SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis.

PMID 9920104 1999 Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene.

PMID 17940114 2008 Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.

PMID 18285825 2008 A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.

PMID 23273637 2013 Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.

PMID 17876604 2008 Pendred syndrome among patients with congenital hypothyroidism detected by neonatal screening: identification of two novel PDS/SLC26A4 mutations.

PMID 22717225 2012 Novel mutations in the SLC26A4 gene.

PMID 23918157 2013 Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.

PMID 18813951 2009 Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.

PMID 19648736 2010 Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome.

PMID 19718752 2009 Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment.

PMID 25149764 2014 A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss.