Article
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
European journal of human genetics : EJHG - 1 Aug 2008
Pera Alejandra, Villamar Manuela, Viñuela Antonio, Gandía Marta, Medà Carme, Moreno Felipe, Hernández-Chico Concepción
Abstract excerpt
Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 gene. Both disorders are recessive, and yet only one mutated SLC26A4 allele, or no mutations, are identified in many cases. Here we present the genetic characterization of 105 Spanish patients from 47 families with PS or non-syndromic EVA and 20...
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