… we identify EPHA2 as another causative gene of Pendred … loss with EVA carrying mono-allelic
mutation of SLC26A4. … this study do not have cataracts, dominant pathogenic variants …

… In this review, we refer to Pendred syndrome and DFNB4 as SLC26A4-… variants located in
introns or intergenic regions upstream of SLC26A4 was identified as a recessive mutant allele …

… 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 +/…

… 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 …

… of whom possess sensorineural hearing loss due to the same homozygous SLC26A4 variant
c.919-… was performed, and we identified a homozygous pathogenic variant c.919-2A>G in …

… variant in MYO5C has been identified in one patient negative to SLC26A4 gene, suggesting
the identification … , and M2 when both mutant alleles are identified [15]. This consideration …

… all PS/NSEVA patients with hearing loss admitted to our tertiary … of mutated SLC26A4 alleles
in 115 Pendred syndrome/… of 12 uncommon variants upstream of SLC26A4 was identified in …

… SLC26A4 variation associated with EVA in Chinese population. … high allele frequencies of
3.36e-4 and 9.749e-5. The … mutation identified in our study might impair the activity of Pendrin …

… gene and includes non-syndromic and syndromic types. This … the SLC26A4 gene can lead
to functional defects in pendrin, … two heterozygous mutations in SLC26A4 were identified. The …

… As a result, we identified compound heterozygous mutations … of pendrin by altering the structure
of the pendrin protein. The c… However, it was only detected in two of the 111612 alleles in …