Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment
Open Access
- 13 November 2001
- journal article
- mutation in-brief
- Published by Hindawi Limited in Human Mutation
- Vol. 18 (6) , 548
- https://doi.org/10.1002/humu.1238
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).Keywords
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