Xcode Life

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

rs117047270 in SLC26A4 gene and Alkaline phosphatase measurement

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1060499808 in SLC26A4 gene and DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

PMID 30622556 2018 Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.

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

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

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

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

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

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

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

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

PMID 29372807 2017 [Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders].

PMID 28964290 2017 Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

PMID 19786220 2009 Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

PMID 30693673 2019 Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province.

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

PMID 15811013 2005 Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings.

PMID 28604962 2017 [Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome].

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

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 25468468 2014 SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II.

PMID 9618166 1998 Two frequent missense mutations in Pendred syndrome.

PMID 24338212 2014 Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

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

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

PMID 16711435 2006 [Genotypic analysis of familial dilated vestibular aqueduct syndrome].

PMID 28444304 2017 A frequent oligogenic involvement in congenital hypothyroidism.

PMID 21961810 2011 Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.

PMID 25266519 2014 Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.

PMID 26763877 2016 An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.

PMID 24007330 2014 Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.

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

PMID 16460646 2006 Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

PMID 22116360 2011 Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.

PMID 30077349 2019 A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss.

PMID 26346818 2016 Comprehensive genetic testing with ethnic-specific filtering by allele frequency in a Japanese hearing-loss population.

PMID 20826203 2010 Salicylate restores transport function and anion exchanger activity of missense pendrin mutations.

PMID 26226137 2016 Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

PMID 19608655 2009 Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.

PMID 21154317 2010 [Sequencing analysis of whole SLC26A4 gene in severe to profound sensorineural hearing loss patients with IVS7-2A to G mutation of the gene].

PMID 16053392 2005 Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome.

PMID 30760291 2019 Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

PMID 26752218 2016 Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.

PMID 20128824 2010 Two missense mutations in SLC26A4 gene: a molecular and functional study.

PMID 19615760 2009 Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural 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 29048421 2018 Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients.

PMID 10861298 2000 Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

PMID 30139988 2018 Genetics of hearing loss in the Arab population of Northern Israel.

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

PMID 29546359 2018 Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.

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 24599119 2014 Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

PMID 25572613 2015 Patient with an SLC26A4 gene mutation who had low-frequency sensorineural hearing loss and endolymphatic hydrops.

PMID 27344577 2016 Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

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

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

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

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

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

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

PMID 23705809 2013 Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.

PMID 20583162 2010 A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification.

PMID 23967202 2013 Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.

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

PMID 15574297 2005 Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.

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

PMID 30086623 2019 Two Compound Heterozygous Were Identified in SLC26A4 Gene in Two Chinese Families With Enlarged Vestibular Aqueduct.

PMID 30240412 2018 High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.

PMID 22975760 2013 An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

PMID 28000701 2017 The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.

PMID 12354788 2002 Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.

PMID 30484383 2019 Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs.

PMID 29739340 2018 Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

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

PMID 19169484 2008 Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.

PMID 25290043 2015 The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.

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

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

PMID 27246798 2016 Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

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

PMID 28786104 2017 Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.

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

rs1045933779 in SLC26A4 gene and Pendred's syndrome

PMID 20146813 2010 High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.

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

PMID 23401162 2013 Significance of unilateral enlarged vestibular aqueduct.

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

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

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

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 23151025 2012 Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.

PMID 18250610 2007 Two common and three novel PDS mutations in Thai patients with Pendred syndrome.

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

PMID 26100058 2015 Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct.

PMID 23838540 2013 A Novel mutation in the SLC26A4 gene in a Chinese family with Pendred syndrome.

PMID 19786220 2009 Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.

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

PMID 27247933 2016 Mutation Analysis of the Common Deafness Genes in Patients with Nonsyndromic Hearing Loss in Linyi by SNPscan Assay.

PMID 23385134 2013 Compound heterozygous mutations of SLC26A4 in 4 Chinese families with enlarged vestibular aqueduct.

PMID 22289209 2012 Genetic diagnosis and cochlear implantation for patients with nonsyndromic hearing loss and enlarged vestibular aqueduct.

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

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

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

PMID 25788563 2015 Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.

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

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

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

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

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 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 We therefore concluded that V138F is a founder mutation in our cohort of German families with Pendred's syndrome.

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

PMID 21551164 2011 Life-threatening metabolic alkalosis in Pendred syndrome.

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

PMID 27090054 2017 Resistance to hypertension and high Cl^- excretion in humans with SLC26A4 mutations.

PMID 19645628 2009 Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.

PMID 9618166 1998 Two frequent missense mutations in Pendred syndrome.

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

PMID 9070918 1997 The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.

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

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

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

PMID 26683941 2015 Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.

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

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

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

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 17503324 2007 Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

PMID 25999548 2015 Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review.

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

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

PMID 19426954 2009 Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

PMID 26485571 2016 Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.

PMID 17309986 2007 The influence of mutations in the SLC26A4 gene on the temporal bone in a population with enlarged vestibular aqueduct.

PMID 19509082 2009 Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.

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

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

PMID 21961810 2011 Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.

PMID 23638949 2013 Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.

PMID 27541434 2016 Concurrent Genetic and Standard Screening for Hearing Impairment in 9317 Southern Chinese Newborns.

PMID 25468468 2014 SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II.

PMID 24007330 2014 Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.

PMID 15811013 2005 Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings.

PMID 28444304 2017 A frequent oligogenic involvement in congenital hypothyroidism.

PMID 24338212 2014 Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

PMID 21366435 2011 Identification of SLC26A4 mutations in patients with hearing loss and enlarged vestibular aqueduct using high-resolution melting curve analysis.

PMID 25991456 2015 DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

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

PMID 12354788 2002 Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.

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

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

PMID 16460646 2006 Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.

PMID 22116360 2011 Functional characterization of pendrin mutations found in the Israeli and Palestinian populations.

PMID 23504402 2013 SLC26A4 mutations in patients with moderate to severe hearing loss.

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 22116358 2011 Molecular and functional characterization of human pendrin and its allelic variants.

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 20826203 2010 Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.

PMID 19620588 2009 Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.

PMID 19578036 2009 Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

PMID 22384008 2012 Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.

PMID 15720248 2005 Pathogenetics of the human SLC26 transporters.

PMID 16950989 2006 Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.

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

PMID 18274916 2008 GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects.

PMID 22717225 2012 Novel mutations in the SLC26A4 gene.

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

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

PMID 19608655 2009 Functional characterization of wild-type and mutated pendrin (SLC26A4), the anion transporter involved in Pendred syndrome.

PMID 16053392 2005 Molecular analysis of the PDS gene in a nonconsanguineous Sicilian family with Pendred's syndrome.

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

PMID 16275403 2006 Large vestibular aqueduct syndrome: audiological, radiological, clinical, and genetic features.

PMID 17766716 2007 High phenotypic intrafamilial variability in patients with Pendred syndrome and a novel duplication in the SLC26A4 gene: clinical characterization and functional studies of the mutated SLC26A4 protein.

PMID 23555729 2013 Etiology and audiological outcomes at 3 years for 364 children in Australia.

PMID 20668687 2010 Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice.

PMID 20128824 2010 Two missense mutations in SLC26A4 gene: a molecular and functional study.

PMID 25373420 2014 Exploration of molecular genetic etiology for Korean cochlear implantees with severe to profound hearing loss and its implication.

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

PMID 10861298 2000 To determine whether PDS mutations in individuals with Pendred syndrome differ functionally from PDS mutations in individuals with non-syndromic hearing loss, we compared three common Pendred syndrome allele variants (L236P, T416P and E384G), with three PDS mutations reported only in individuals with non-syndromic hearing loss (V480D, V653A and I490L/G497S).

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

PMID 26445815 2015 Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.

PMID 10874637 1999 Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome.

PMID 16711435 2006 [Genotypic analysis of familial dilated vestibular aqueduct syndrome].

PMID 15574297 2005 Hearing loss associated with enlarged vestibular aqueduct and Mondini dysplasia is caused by splice-site mutation in the PDS gene.

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

PMID 19318451 2009 Genetic causes of goiter and deafness: Pendred syndrome in a girl and cooccurrence of Pendred syndrome and resistance to thyroid hormone in her sister.

PMID 14715652 2004 Functional characterization of pendrin in a polarized cell system. Evidence for pendrin-mediated apical iodide efflux.

PMID 10878664 2000 Hearing impairment was caused in one family by a novel mutation in the recently identified OTOF (the DFNB9 gene), by a novel Pendred syndrome mutation (Thr193Ile) in another family, and by a GJB2 mutation (35delG also known as 30delG) in the third family.

PMID 26752218 2016 Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.

PMID 26397989 2015 Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.

PMID 20826203 2010 Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.

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

PMID 20826203 2010 Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.

PMID 27344577 2016 Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

PMID 25266519 2014 Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.

PMID 25290043 2015 The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.

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

PMID 24248179 2014 "Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and ""apparent"" thyroid dysgenesis."

PMID 27240500 2016 Identification of a novel mutation in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct syndrome.

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

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 20583162 2010 A patient with Pendred syndrome whose goiter progressed with normal serum thyrotropin and iodine organification.

PMID 23705809 2013 Pathogenic substitution of IVS15 + 5G > A in SLC26A4 in patients of Okinawa Islands with enlarged vestibular aqueduct syndrome or Pendred syndrome.

PMID 19744334 2009 Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.

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

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

PMID 15531480 2004 To investigate a possible genotype-phenotype correlation in PS, we performed a detailed clinical and genetic study in three adult German sibs with typical PS caused by a common homozygous SLC26A4 mutation, T416P.

PMID 22412181 2012 Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.

PMID 19169484 2008 Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.

PMID 22903915 2012 A comprehensive study to determine heterogeneity of autosomal recessive nonsyndromic hearing loss in Iran.

PMID 10902795 2000 Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome.

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

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

PMID 28604962 2017 [Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome].

PMID 28786104 2017 Prevalence of Mutations in Deafness-Causing Genes in Cochlear Implanted Patients with Profound Nonsyndromic Sensorineural Hearing Loss in Shandong Province, China.

PMID 17697873 2007 Analysis of the SLC26A4 gene in patients with Pendred syndrome in Taiwan.

PMID 15933521 2005 Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation.

PMID 24913939 2014 Genetic counseling and prenatal diagnosis for hereditary hearing loss in high-risk families.

PMID 25491636 2015 Challenges and solutions for gene identification in the presence of familial locus heterogeneity.

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

PMID 23980138 2013 Anion translocation through an Slc26 transporter mediates lumen expansion during tubulogenesis.

PMID 27573290 2017 Genetic causes of moderate to severe hearing loss point to modifiers.

PMID 24949729 2014 Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

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 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 11502831 2001 Two Chinese families with Pendred's syndrome--radiological imaging of the ear and molecular analysis of the pendrin gene.

PMID 22796198 2012 Mutational analysis of the SLC26A4 gene in Chinese sporadic nonsyndromic hearing-impaired children.

PMID 23151031 2013 Identification of two heterozygous deafness mutations in SLC26A4 (PDS) in a Chinese family with two siblings.

PMID 21154317 2010 [Sequencing analysis of whole SLC26A4 gene in severe to profound sensorineural hearing loss patients with IVS7-2A to G mutation of the gene].

PMID 23266159 2013 Sensorineural hearing loss caused by mutations in two alleles of both GJB2 and SLC26A4 genes.

PMID 23296490 2013 The effect of GJB2 and SLC26A4 gene mutations on rehabilitative outcomes in pediatric cochlear implant patients.

PMID 18167283 2007 [Screening of SLC26A4 (PDS) gene mutation in cochlear implant recipients with inner ear malformation].