{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Sklenar M"],"funding":["Structural funds Slovakia","Doktogrant Slovenska akademia vied","Agentúra na Podporu Výskumu a Vývoja","Vedecka grantova agentura MSVVaM SR a SAV"],"pagination":["208"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12107780"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["31(1)"],"pubmed_abstract":["<h4>Background</h4>Pathogenic variants in the SLC26A4 gene, encoding for Cl<sup>-</sup>/HCO<sub>3</sub><sup>-</sup> and I<sup>-</sup> anion transporter pendrin, are associated with non-syndromic hearing loss with enlarged vestibular aqueduct (NSEVA) and Pendred syndrome (PDS). In the Caucasian population, up to 75% of patients fail to identify a genetic cause through biallelic mutations in the SLC26A4 gene. The CEVA haplotype could therefore play an important role in the diagnostics of NSEVA. The aim of the study was to determine the genetic etiology of hearing loss with EVA or with fully developed PDS in 37 probands and the functional characterization of novel variants identified in the SLC26A4 gene.<h4>Methods</h4>To determine the genetic etiology, Sanger sequencing, WES and KASP genotyp"],"journal":["Molecular medicine (Cambridge, Mass.)"],"pubmed_title":["Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome."],"pmcid":["PMC12107780"],"funding_grant_id":["APP0485","APVV-20-0236","VEGA 1/0572/21","ITMS 313010AFG5","VEGA 1/0659/22"],"pubmed_authors":["Borecka S","Stanik J","Skopkova M","Ugorova D","Varga L","Gasperikova D","Bernardinelli E","Dossena S","Sklenar M","Sabo M"],"additional_accession":[]},"is_claimable":false,"name":"Genetic heterogeneity in patients with enlarged vestibular aqueduct and Pendred syndrome.","description":"<h4>Background</h4>Pathogenic variants in the SLC26A4 gene, encoding for Cl<sup>-</sup>/HCO<sub>3</sub><sup>-</sup> and I<sup>-</sup> anion transporter pendrin, are associated with non-syndromic hearing loss with enlarged vestibular aqueduct (NSEVA) and Pendred syndrome (PDS). In the Caucasian population, up to 75% of patients fail to identify a genetic cause through biallelic mutations in the SLC26A4 gene. The CEVA haplotype could therefore play an important role in the diagnostics of NSEVA. The aim of the study was to determine the genetic etiology of hearing loss with EVA or with fully developed PDS in 37 probands and the functional characterization of novel variants identified in the SLC26A4 gene.<h4>Methods</h4>To determine the genetic etiology, Sanger sequencing, WES and KASP genotyp","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 May","modification":"2026-06-01T23:24:16.995Z","creation":"2026-05-23T03:07:13.655Z"},"accession":"S-EPMC12107780","cross_references":{"pubmed":["40426046"],"doi":["10.1186/s10020-025-01262-x"]}}