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

N. López-Bigas, S. Melchionda, R. de Cid, A. Grifa, L. Zelante, N. Govea, M. L. Arbonés, P. Gasparini, Xavier P. Estivill

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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 languageEnglish
Pages (from-to)548
Number of pages1
JournalHuman Mutation
Volume18
Issue number6
Publication statusPublished - Dec 2001
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

López-Bigas, N., Melchionda, S., de Cid, R., Grifa, A., Zelante, L., Govea, N., Arbonés, M. L., Gasparini, P., & Estivill, X. P. (2001). Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Human Mutation, 18(6), 548.