RGD Reference Report - Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria. - Rat Genome Database

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Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria.

Authors: Calado, J  Soto, K  Clemente, C  Correia, P  Rueff, J 
Citation: Calado J, etal., Hum Genet. 2004 Feb;114(3):314-6. Epub 2003 Nov 12.
RGD ID: 1599049
Pubmed: PMID:14614622   (View Abstract at PubMed)
DOI: DOI:10.1007/s00439-003-1054-x   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
renal glycosuria  IAGP 1599049DNA:frameshift mutation more ...RGD 
renal glycosuria  ISOSLC5A2 (Homo sapiens)1599049; 1599049DNA:frameshift mutation more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Slc5a2  (solute carrier family 5 member 2)

Genes (Mus musculus)
Slc5a2  (solute carrier family 5 (sodium/glucose cotransporter), member 2)

Genes (Homo sapiens)
SLC5A2  (solute carrier family 5 member 2)


Additional Information