Erratum: 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 novel mutations (X781W, T132I, IVS2-2A>G, Y556H and 406del5).
Medical and Molecular Genetics Center-IRO, Hospital Duran i Reynals, L'Hospitalet, Barcelona, Spain.
N
N
López-Bigas
S
S
Melchionda
R
R
de Cid
A
A
Grifa
L
L
Zelante
N
N
Govea
M L
ML
Arbonés
P
P
Gasparini
X
X
Estivill
D000483:Alleles; D017398:Alternative Splicing / Q000235:genetics; 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; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics*; D006801:Humans; D007558:Italy; D019083:Mediterranean Region; D026901:Membrane Transport Proteins; D009154:Mutation; D020125:Mutation, Missense; D010641:Phenotype; D017384:Sequence Deletion; D013030:Spain; D000076988:Sulfate Transporters; D013577:Syndrome
D002352:Carrier Proteins; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D004247:DNA