Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.
Hum Genet
; 114(3): 314-6, 2004 Feb.
Article
em En
| MEDLINE
| ID: mdl-14614622
ABSTRACT
Familial renal glucosuria is an inherited renal tubular disorder. A homozygous nonsense mutation in the SLC5A2 gene, encoding the sodium/glucose co-transporter SGLT2, has recently been identified in an affected child of consanguineous parents. We now report novel compound heterozygous mutations in the son of non-consanguineous parents. One allele has a p.Q167fsX186 mutation, which is expected to produce a truncated protein, and the other a p.N654S mutation involving a highly conserved residue. These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Transporte de Monossacarídeos
/
Genes Recessivos
/
Glicosúria Renal
/
Heterozigoto
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article