A common <i>SLC26A4</i>-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

Abstract

The CEVA haplotype causally contributes to most cases of Caucasian M1 EVA and, possibly, some cases of M0 EVA. The CEVA haplotype of <i>SLC26A4</i> defines the most common allele associated with hereditary hearing loss in Caucasians. The diagnostic yield and prognostic utility of sequence analysis of <i>SLC26A4</i> exons and splice sites will be markedly increased by addition of testing for the CEVA haplotype.