A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria.

ABSTRACT: Familial renal glycosuria (FRG) is caused by mutations in the SLC5A2 gene, which codes for Na⁺-glucose co-transporters 2 (SGLT2). The aim of this study was to analyze and identify the mutations in 16 patients from 8 families with FRG. All coding regions, including intron-exon boundaries, were analyzed using PCR followed by direct sequence analysis. Six mutations in SLC5A2 gene were identified, including five missense mutations (c.393G > C, p.K131N; c.1003A > G, p.S335G; c.1343A > G, p.Q448R; c.1420G > C, p.A474P; c.1739G > A, p.G580D) and a 22-bp deletion in intron 7 (c.886(-10_-31)del) removing the putative branch point sequence. By the minigene studies using the pSPL3 plasmids, we confirmed that the deletion c.886(-10_-31)del acts as a splicing mutation. Furthermore, we found

SUBMITTER: Zhao X 

PROVIDER: S-EPMC5036194 | biostudies-literature | 2016 Sep

REPOSITORIES: biostudies-literature