A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria.

ABSTRACT: Familial renal glucosuria (FRG) is characterized by persistent glucosuria despite normal blood glucose levels in the absence of overt tubular dysfunction. SGLT2 is a sodium-glucose cotransporter expressed in the proximal tubule; loss-of-function variants in SLC5A2 are the primary cause of FRG. Heterozygous variants have rarely been reported in Japanese individuals. Here, we identified a novel SLC5A2 heterozygous variant, c.1348G>T: p.Gly450Trp, in a Japanese family comprising two children and their father.

SUBMITTER: Hatano M 

PROVIDER: S-EPMC9712647 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature