Article
Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene.
Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2008
Lofrano-Porto Adriana, Barra Gustavo B, Nascimento Paula P, Costa Patrícia G G, Garcia Erica C, Vaz Rodrigo F, Batista Ana R T, Freitas Ana C R de, Cherulli Bruno L B, Bahmad Fayez, Figueiredo Larissa G, Neves Francisco A R, Casulari Luiz Augusto
Abstract excerpt
Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct (EVA) to a typical coclear dysplasia. Mutations in the gene that encodes pendrin (SLC26A4), a chloride/iodide transporter, have been shown to be associated with...
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