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, Xavier P. 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 - 2002
Externally publishedYes

Fingerprint

Hearing Loss
Mutation
Genes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Sensorineural Hearing Loss
Goiter
Iodides
Deafness
Chlorides
Carrier Proteins
Chromosomes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Erratum : Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. / López-Bigas, N.; Melchionda, S.; de Cid, R.; Grifa, A.; Zelante, L.; Govea, N.; Arbonés, M. L.; Gasparini, P.; Estivill, Xavier P.

In: Human Mutation, Vol. 20, No. 1, 2002, p. 77-78.

Research output: Contribution to journalArticle

López-Bigas, N, Melchionda, S, de Cid, R, Grifa, A, Zelante, L, Govea, N, Arbonés, ML, Gasparini, P & Estivill, XP 2002, 'Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment', Human Mutation, vol. 20, no. 1, pp. 77-78. https://doi.org/10.1002/humu.9043
López-Bigas, N. ; Melchionda, S. ; de Cid, R. ; Grifa, A. ; Zelante, L. ; Govea, N. ; Arbonés, M. L. ; Gasparini, P. ; Estivill, Xavier P. / Erratum : Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. In: Human Mutation. 2002 ; Vol. 20, No. 1. pp. 77-78.
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AU - Grifa, A.

AU - Zelante, L.

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AU - Arbonés, M. L.

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