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Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment

✍ Scribed by N. López-Bigas; S. Melchionda; R. de Cid; A. Grifa; L. Zelante; N. Govea; M.L. Arbonés; P. Gasparini; X. Estivill

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 23 KB
Volume: 18
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1238

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✦ Synopsis

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).

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