Condition: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT


rs137853074 in KCNJ10 gene and DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT PMID 19426954 2009 Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

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.

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.

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).