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).
authors.affiliation: Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, L'Hospitalet, Barcelona, Spain.
authors.forename: N
authors.initials: N
authors.lastname: López-Bigas
authors.forename: S
authors.initials: S
authors.lastname: Melchionda
authors.forename: R
authors.initials: R
authors.lastname: de Cid
authors.forename: A
authors.initials: A
authors.lastname: Grifa
authors.forename: L
authors.initials: L
authors.lastname: Zelante
authors.forename: N
authors.initials: N
authors.lastname: Govea
authors.forename: M L
authors.initials: ML
authors.lastname: Arbonés
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: D000483:Alleles; D002352:Carrier Proteins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005838:Genotype; D006042:Goiter / Q000150:complications / Q000235:genetics; D006311:Hearing Disorders / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics; D006801:Humans; D007558:Italy; D026901:Membrane Transport Proteins; D009154:Mutation; D010641:Phenotype; D013030:Spain; D000076988:Sulfate Transporters; D013577:Syndrome
chemical_list: D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D004247:DNA