Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2)

Autor: K.F.H. Assink, L.P.W.J. van den Heuvel, L.A.H. Monnens, Michèl A.A.P. Willemsen
Rok vydání: 2002
Předmět:
Glycosuria
medicine.medical_specialty
Monosaccharide Transport Proteins
endocrine system diseases
Nonsense mutation
Genes
Recessive
Disturbances of cerebral development in the young child
Inborn errors of metabolism
Glycosuria
Renal
Biology
medicine.disease_cause
Disturbances in biochemical and functional development of the kidney during childhood
Pathogenesis
Exon
Sodium-Glucose Transporter 2
Internal medicine
Genetics
medicine
Humans
Erfelijke stofwisselingsziekten
Gene
Genetics (clinical)
DNA Primers
Mutation
Base Sequence
nutritional and metabolic diseases
Stoornissen in de biochemische en functionele ontwikkeling van de nier op kinderleeftijd
medicine.disease
Endocrinology
Child
Preschool
Cerebrale ontwikkelingsstoornissen bij het jonge kind
medicine.symptom
Cotransporter
Kidney disease
Zdroj: Human Genetics, 111, 544-547
Human Genetics, 111, 6, pp. 544-547
ISSN: 0340-6717
DOI: 10.1007/s00439-002-0820-5
Popis: Item does not contain fulltext 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.
Databáze: OpenAIRE
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