| Literature DB >> 12112665 |
N López-Bigas1, S Melchionda, R de Cid, A Grifa, L Zelante, N Govea, M L Arbonés, P Gasparini, X Estivill.
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). Copyright 2002 Wiley-Liss, Inc.Entities:
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Year: 2002 PMID: 12112665 DOI: 10.1002/humu.9043
Source DB: PubMed Journal: Hum Mutat ISSN: 1059-7794 Impact factor: 4.878