These authors contributed equally to this work.
Mutation in Brief
Article first published online: 13 NOV 2001
Copyright © 2001 Wiley-Liss, Inc.
Volume 18, Issue 6, page 548, December 2001
How to Cite
López-Bigas, N., Melchionda, S., de Cid, R., Grifa, A., Zelante, L., Govea, N., Arbonés, M.L., Gasparini, P. and Estivill, X. (2001), Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment . Hum. Mutat., 18: 548. doi: 10.1002/humu.1238
Communicated by Mark H. Paalman
Online Citation: Human Mutation, Mutation in Brief #465 (2001) Online http://www.interscience.wiley.com/jpages/1059-7794/pdf/mutation/465.pdf
- Issue published online: 13 NOV 2001
- Article first published online: 13 NOV 2001
- Manuscript Accepted: 21 SEP 2001
- Manuscript Received: 16 JUL 2001
- Cited By
- Pendred syndrome;
- deafness, non-syndromic;
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). © 2001 Wiley-Liss, Inc.