Article
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
Human mutation - 1 Apr 2009
Choi Byung Yoon, Stewart Andrew K, Madeo Anne C, Pryor Shannon P, Lenhard Suzanne, Kittles Rick, Eisenman David, Kim H Jeffrey, Niparko John, Thomsen James, Arnos Kathleen S, Nance Walter E, King Kelly A, Zalewski Christopher K, Brewer Carmen C, Shawker Thomas, Reynolds James C, Butman John A, Karniski Lawrence P, Alper Seth L, Griffith Andrew J
Abstract excerpt
Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl(-)/I(-)/HCO(3)(-) exchanger. Pendrin's critical transport substrates are thought to be I(-) in the thyroid gland and HCO(3)(-) in the inner ear....
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