… , (1) more than 160 allelic variants of the SLC26A4 gene have been … Previously, we identified
26 SLC26A4 allelic variants, … In this study, we screened the SLC26A4 coding sequence in a …

… In addition, we considered two variants of debatable pathogenicity, M34T and V37I, to be …
of mutated SLC26A4 alleles. Our data have important implications for genetic testing and …

… been reported in the SLC26A4 gene. Among different countries or regions, specific variants
of SLC26A4 gene were found in diverse … 2168A>G carrier frequencies of SLC26A4 allele. …

… -allele variants in patients with a single-allele SLC26A4 mutation detected by neonatal deafness
gene screening (4 genes and 9 pathogenic variants) … with bi-allelic SLC26A4 mutations. …

… Actually it is thought that Pendred Syndrome occurs when both alleles of SLC26A4 gene are
… Understanding the role of new SLC26A4 variants should facilitate clinical assessment, as …

… phenotypes in our families are not driven by di-genic variants in the aforementioned genes.
… the number of mutated alleles in SLC26A4 to the severity of DFNB4. Bi-allelic variants led to …

… associated with mutations in the TPO and SLC26A4/PDS genes. J Clin Endocrinol Metab
2006;91… M: Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred …

… Allowing one allele in each consanguineous family, we detected 91/198 (46%) allelic
variants, 53 of which were different. For the study of clinical phenotype and the prevalence of …

… of pathogenic SLC26A4 alleles. … SLC26A4 mutations have also been associated with
deafness (17) and digenic heterozygous inheritance with the inwardly rectifying K + channel gene …

… Although unlikely, if the FOXI1 variant and the two KCNJ10 variants … SLC26A4, then 3.4%
and 6.9% of the missing mutant alleles in our SNHL patients would be attributable to variants …