{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T19:35:15Z","timestamp":1787686515507,"version":"build-2784847793"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T00:00:00Z","timestamp":1572566400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Diabetes Invest"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the identification of a mutation in the solute carrier family\u00a05 member\u00a02 (<jats:italic>SLC5A2<\/jats:italic>) gene, which encodes sodium\u2013glucose cotransporter\u00a02, in a family with familial renal glucosuria. The proband was a 26\u2010year\u2010old Japanese man referred to the diabetes division with repeated glucosuria without hyperglycemia. His mother, uncle and grandfather also had a history of glucosuria. A heterozygous missense mutation (c.303T&gt;A:p.N101K) in <jats:italic>SLC5A2<\/jats:italic> was identified in the patient and his mother, but not in 200 chromosomes from 100 healthy and unrelated individuals, or in 3,408 Japanese individuals in the Tohoku Medical Megabank. Furthermore, bioinformatics software predicted that this lesion would be pathogenic. We infer that the mutation led to clinically relevant sodium\u2013glucose cotransporter\u00a02 dysfunction. The patient showed no symptoms of hypoglycemia, but continuous glucose monitoring confirmed asymptomatic hypoglycemia.<\/jats:p>","DOI":"10.1111\/jdi.13157","type":"journal-article","created":{"date-parts":[[2019,10,4]],"date-time":"2019-10-04T13:52:49Z","timestamp":1570197169000},"page":"573-577","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Clinical and genetic analysis in a family with familial renal glucosuria: Identification of an N101K mutation in the sodium\u2013glucose cotransporter\u00a02 encoded by a solute carrier family\u00a05 member\u00a02 gene"],"prefix":"10.1111","volume":"11","author":[{"given":"Kentaro","family":"Sada","sequence":"first","affiliation":[{"name":"Department of Diabetes and Metabolism Koseiren Tsurumi Hospital Oita Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8006-9141","authenticated-orcid":false,"given":"Shuji","family":"Hidaka","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Metabolism Koseiren Tsurumi Hospital Oita Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nao","family":"Imaishi","sequence":"additional","affiliation":[{"name":"Department of Diabetes and Metabolism Koseiren Tsurumi Hospital Oita Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kohei","family":"Shibata","sequence":"additional","affiliation":[{"name":"Department of Gastrointestinal Surgery Koseiren Tsurumi Hospital Oita Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rumi","family":"Katashima","sequence":"additional","affiliation":[{"name":"Laboratory for Pediatric Genome Medicine Department of Clinical Research National Hospital Organization Shikoku Medical Center for Children and Adults Kagawa Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinsuke","family":"Noso","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes Faculty of Medicine Kindai University Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Ikegami","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism and Diabetes Faculty of Medicine Kindai University Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuya","family":"Kakuma","sequence":"additional","affiliation":[{"name":"Department of Health Support Center Oita University Oita Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirotaka","family":"Shibata","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Metabolism, Rheumatology and Nephrology Faculty of Medicine Oita University Oita 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