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

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 journal › Article › peer-review

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 language	English
Pages (from-to)	548
Number of pages	1
Journal	Human Mutation
Volume	18
Issue number	6
Publication status	Published - Dec 2001

ASJC Scopus subject areas

Medicine(all)

Fingerprint Dive into the research topics of 'Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.'. Together they form a unique fingerprint.

Cite this

@article{cd53cb06ba6f41afb0690639ed2587a2,

title = "Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.",

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).",

author = "N. L{\'o}pez-Bigas and S. Melchionda and {de Cid}, R. and A. Grifa and L. Zelante and N. Govea and Arbon{\'e}s, {M. L.} and P. Gasparini and X. Estivill",

year = "2001",

month = dec,

language = "English",

volume = "18",

pages = "548",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

number = "6",

}

TY - JOUR

T1 - Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.

AU - López-Bigas, N.

AU - Melchionda, S.

AU - de Cid, R.

AU - Grifa, A.

AU - Zelante, L.

AU - Govea, N.

AU - Arbonés, M. L.

AU - Gasparini, P.

AU - Estivill, X.

PY - 2001/12

Y1 - 2001/12

N2 - 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).

AB - 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).

UR - http://www.scopus.com/inward/record.url?scp=0035650797&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035650797&partnerID=8YFLogxK

M3 - Article

C2 - 11748854

AN - SCOPUS:0035650797

VL - 18

SP - 548

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 6

ER -