Article
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Human mutation - 1 Dec 2001
López-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbonés M L, Gasparini P, Estivill X
Abstract excerpt
Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS/SLC26A4) has been mapped to chromosome 7q22-q31 and encodes a chloride-iodide transport protein. Mutations in this gene are also a cause of non-syndromic autosomal recessive hearing impairment...
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