Article
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
Journal of medical genetics - 1 Oct 2017
Chattaraj Parna, Munjal Tina, Honda Keiji, Rendtorff Nanna D, Ratay Jessica S, Muskett Julie A, Risso Davide S, Roux Isabelle, Gertz E Michael, Schäffer Alejandro A, Friedman Thomas B, Morell Robert J, Tranebjærg Lisbeth, Griffith Andrew J
Abstract excerpt
BACKGROUND: Enlargement of the vestibular aqueduct (EVA) is the most common radiological abnormality in children with sensorineural hearing loss. Mutations in coding regions and splice sites of the SLC26A4 gene are often detected in Caucasians with EVA. Approximately one-fourth of patients with EVA have two mutant alleles (M2), one-fourth have one mutant allele (M1) and one-half have no mutant alleles (M0). The...
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