biostudies-literatureSchafer NEuropean Union’s Seventh Framework ProgrammeDanish Council for independent researchGerman Research FoundationKing Saud University, Saud ArabiaRussian Academic Excellence ProjectHorizon 2020 Research and Innovation ProgrammeKing Saud University, Saudi Arabiae0205109https://www.ebi.ac.uk/biostudies/studies/S-EPMC6171906biostudies-literatureUnknown13(10)Sodium-glucose transporters (SGLT) belong to the solute carrier 5 family, which is characterized by sodium dependent transport of sugars and other solutes. In contrast, the human SGLT3 (hSGLT3) isoform, encoded by SLC5A4, acts as a glucose sensor that does not transport sugar but induces membrane depolarization by Na+ currents upon ligand binding. Whole-exome sequencing (WES) of several extended pedigrees with high density of attention-deficit/hyperactivity disorder (ADHD) identified a triplet ATG deletion in SLC5A4 leading to a single amino acid loss (ΔM500) in the hSGLT3 protein imperfectly co-segregating with the clinical phenotype of ADHD. Since mutations in homologous domains of hSGLT1 and hSGLT2 were found to affect intestinal and renal function, respectively, we analyzed the functioPloS oneFunctional analysis of a triplet deletion in the gene encoding the sodium glucose transporter 3, a potential risk factor for ADHD.PMC6171906DFF-6108-001225-100728018 (Eat2beNICESFB TRR58-A05FP7/2007–2013/No. 602805Friedrich MKollert SDoring FSchafer NLesch KPKoepsell HWischmeyer EJorgensen MEGeiger DfalseFunctional analysis of a triplet deletion in the gene encoding the sodium glucose transporter 3, a potential risk factor for ADHD.Sodium-glucose transporters (SGLT) belong to the solute carrier 5 family, which is characterized by sodium dependent transport of sugars and other solutes. In contrast, the human SGLT3 (hSGLT3) isoform, encoded by SLC5A4, acts as a glucose sensor that does not transport sugar but induces membrane depolarization by Na+ currents upon ligand binding. Whole-exome sequencing (WES) of several extended pedigrees with high density of attention-deficit/hyperactivity disorder (ADHD) identified a triplet ATG deletion in SLC5A4 leading to a single amino acid loss (ΔM500) in the hSGLT3 protein imperfectly co-segregating with the clinical phenotype of ADHD. Since mutations in homologous domains of hSGLT1 and hSGLT2 were found to affect intestinal and renal function, respectively, we analyzed the functio2018-01-01T00:00:00Z20182026-04-30T03:21:58.293Z2019-03-27T00:03:32ZS-EPMC61719063028616210.1371/journal.pone.0205109