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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).