… SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the
vestibular aqueduct… : Segregation of enlarged vestibular aqueducts in families with non-diagnostic …

… variants of SLC26A4. We sought to define the pathogenic potential of these novel SLC26A4
variants … a causal correlation of hypo-functional SLC26A4 variants with NSEVA is unlikely. …

… In this study, all the 21 exons of SLC26A4 were screened in … In addition, monoallelic
variant was detected in nine patients … variant in SLC26A4, with most having biallelic variants …

… The mutation spectrum of SLC26A4 varies widely among ethnic groups. To investigate the …
SLC26A4 variants, we conducted a large-scale molecular epidemiological survey of SLC26A4…

… We conclude that both SLC26A4 variants show functional and molecular features compatible
… The SLC26A4 variant c.343T>G was found in heterozygosity with the wild type allele in an …

… variants or mutations of conserved non-coding sequences in these patients. We also analysed
the segregation of EVA and SLC26A4 in families with non-diagnostic SLC26A4 … SLC26A4 …

… SLC26A4 cause nonsyndromic hearing loss associated with an enlarged vestibular aqueduct
… mutation screening of SLC26A4 fails to identify two disease-causing allele variants. That a …

… enlarged vestibular aqueduct. For each of the patients, we have analyzed SLC26A4, FOXI1
… Mutation screening of SLC26A4 revealed eight variations in seven patients (Table 1). The …

… None of the 21 subjects carry the CEVA haplotype, extending our previous conclusion that
their SLC26A4 variants are either benign or pathogenic only in trans with a mutation of exons …

… In all, 91 allelic variants were observed in 100 unrelated families, of which 19 have … of
SLC26A4 mutations is high in patients with isolated deafness and enlarged vestibular aqueduct …