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).
Original language | English |
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Pages (from-to) | 548 |
Number of pages | 1 |
Journal | Human Mutation |
Volume | 18 |
Issue number | 6 |
Publication status | Published - Dec 2001 |
ASJC Scopus subject areas
- Medicine(all)