Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
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Lopez-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbones ML, Gasparini P, Estivill X
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
Hum Mutat. 2001 Dec;18(6):548. doi: 10.1002/humu.1238.
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- 11748854 [ View in PubMed]
- Abstract
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 (DFNB4). We have analyzed the PDS/SLC26A4 gene in Spanish and Italian families and we have detected five new mutations (X871M, T132I, IVS1-2A>G, Y556H and 406del5).