Erratum: Identification of five new mutations of  PDS/SLC26A4  in Mediterranean families with hearing impairment | Zendy

LópezBigas N. | Zendy; Melchionda S. | Zendy; de Cid R. | Zendy; Grifa A. | Zendy; Zelante L. | Zendy; Govea N. | Zendy; Arbonés M.L. | Zendy; Gasparini P. | Zendy; Estivill X. | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Premium

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

Author(s) -

LópezBigas N.,

Melchionda S.,

de Cid R.,

Grifa A.,

Zelante L.,

Govea N.,

Arbonés M.L.,

Gasparini P.,

Estivill X.

Publication year - 2002

Publication title -

human mutation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.981

H-Index - 162

eISSN - 1098-1004

pISSN - 1059-7794

DOI - 10.1002/humu.9043

Subject(s) - genetics , biology , pendrin , gene , hearing loss , mutation , chromosome , sensorineural hearing loss , audiology , medicine , transporter

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).

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here

Accelerating Research