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Hum Mutat. 2002 Jul;20(1):77-8.

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

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1
Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, L'Hospitalet, Barcelona, Spain.

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 novel mutations (X781W, T132I, IVS2-2A>G, Y556H and 406del5).

PMID:
12112665
DOI:
10.1002/humu.9043
[Indexed for MEDLINE]
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