Erratum: 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, X. Estivill

Research output: Contribution to journalArticle

13 Citations (Scopus)

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).

Original languageEnglish
Pages (from-to)77-78
Number of pages2
JournalHuman mutation
Volume20
Issue number1
DOIs
Publication statusPublished - Jul 2002

    Fingerprint

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. (2002). Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Human mutation, 20(1), 77-78. https://doi.org/10.1002/humu.9043