Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
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).
López-Bigas
N
N
Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, L'Hospitalet, Barcelona, Spain.
Melchionda
S
S
de Cid
R
R
Grifa
A
A
Zelante
L
L
Govea
N
N
Arbonés
M L
ML
Gasparini
P
P
Estivill
X
X
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
D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D004247:DNA