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

20 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 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

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

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

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. 18, No. 6, 12.2001, p. 548.

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 2001, 'Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.', Human Mutation, vol. 18, no. 6, pp. 548.
López-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N et al. Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. Human Mutation. 2001 Dec;18(6):548.
López-Bigas, N. ; Melchionda, S. ; de Cid, R. ; Grifa, A. ; Zelante, L. ; Govea, N. ; Arbonés, M. L. ; Gasparini, P. ; Estivill, Xavier P. / Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment. In: Human Mutation. 2001 ; Vol. 18, No. 6. pp. 548.
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