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- Title
A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria.
- Authors
Hatano, Maho; Udagawa, Tomohiro; Kanamori, Toru; Sutani, Akito; Mori, Takayasu; Sohara, Eisei; Uchida, Shinichi; Morio, Tomohiro; Nishioka, Masato
- 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.
- Subjects
GENETIC variation; JAPANESE people; BLOOD sugar; FAMILIES
- Publication
Human Genome Variation, 2022, Vol 9, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-022-00221-w