Linked Life Data

12436245

Source:http://linkedlifedata.com/resource/pubmed/id/12436245

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2002-11-18
pubmed:abstractText
Patients with primary renal glucosuria have normal blood glucose levels, normal oral glucose tolerance test results, and isolated persistant glucosuria. Congenital renal glucosuria is postulated to be attributable to defects in the SGLT2 gene. The Na(+)/glucose cotransporter gene SGLT2 (= SLC5A2) was analyzed in a Turkish patient with congenital isolated renal glucosuria. Genomic DNA was used as a template for amplification by the polymerase chain reaction of each of the 14 exons of the SGLT2 gene. The amplification products were sequenced. DNA sequence analysis revealed a homozygous nonsense mutation in exon 11 of the SGLT2 gene leading to the formation of a truncated cotransporter. Both parents and a younger brother, all three without renal glucosuria, are heterozygous for the nonsense mutation. Our data provide the first direct evidence of an etiologic role for the sodium/glucose cotransporter type 2 in the pathogenesis of renal glucosuria.
pubmed:language
eng
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:author
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
544-7
pubmed:dateRevised
2005-11-17
pubmed:articleTitle
Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2).
pubmed:affiliation
Department of Pediatrics, University Medical Centre Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. B.vandenHeuvel@cukz.umcn.nl