… syndromic (Pendred syndrome) or nonsyndromic hearing loss, … study, with the aim of identifying
pendrin as the genetic cause of … to pendrin dysfunction only when both SLC26A4 alleles …

… and allelic data support the pathogenicity of this variant, former … Pathogenic variants of the
pendrin protein rising from … , specifically the determination of ion transport function, subcellular …

… identification of SLC26A4 being the causative gene in two patients with hearing loss. The …
with mutations either in one SLC26A4 allele or in both alleles. However, this malformation …

… first time that genetical variations in SLC26A4 gene could play … So, to identify the mutations
or polymorphisms in SLC26A4 … ‘G’ as major allele and ‘T’ as a minor allele were noted. The …

… to partial to complete loss of pendrin's anion transport activity… genetic variants identified
so far in the pendrin gene points to … that a particular pendrin allele only partly contribute to …

… of SLC26A4 mutations to hearing loss in Brazilian patients. … or none possibly pathogenic
allele was identified after Sanger … number variations (CNVs) encompassing the SLC26A4 gene. …

… including Pendred Syndrome and non-syndromic hearing loss with … identity with pendrin
(SLC26Dg 19%, UraA 14%, respectively [26]). … Summary of SLC26A4 missense variants without …

… By analyzing the NGS data, we identified one new SLC26A4 variant c.1150G > C (p.… is a
disease-causing allele disturbing the protein function and normal splicing of exon 10 (loss of the …

… loss we identified a rare, novel SLC26A4 exon 2 splice donor mutation (c.164+1delG) predicted
to truncate pendrin in … inheritance of pathogenic SLC26A4 alleles. Symptoms may vary …

… In certain populations, SLC26A4 variants can be identified in … of pendrin in the cochlea of
Slc26a4 T721M/T721M and … of the targeted variant allele, we produced the congenic Slc26a4 +/…