Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?

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. We...

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Detalhes bibliográficos
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2663020/
https://ncbi.nlm.nih.gov/pubmed/19204907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.20884
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