Clinical and genetic analysis in a family with familial renal glucosuria: Identification of an N101K mutation in the sodium–glucose cotransporter 2 encoded by a solute carrier family 5 member 2 gene
| Autor: | Hiroshi Ikegami, Hirotaka Shibata, Shinsuke Noso, Rumi Katashima, Shuji Hidaka, Nao Imaishi, Kentaro Sada, Kohei Shibata, Tetsuya Kakuma |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Proband Adult Male medicine.medical_specialty Heterozygote endocrine system diseases Endocrinology Diabetes and Metabolism Mutation Missense Short Report Familial renal glucosuria 030204 cardiovascular system & hematology Hypoglycemia Glycosuria Renal Sodium–glucose cotransporter 2 Asymptomatic Diseases of the endocrine glands. Clinical endocrinology 03 medical and health sciences 0302 clinical medicine Asian People Japan Sodium-Glucose Transporter 2 Diabetes mellitus Internal medicine Internal Medicine Medicine Missense mutation Humans Family Solute carrier family 5 member 2 business.industry nutritional and metabolic diseases General Medicine Articles medicine.disease RC648-665 Solute carrier family Pedigree 030104 developmental biology Endocrinology Clinical Science and Care Sodium/Glucose Cotransporter 2 Mutation (genetic algorithm) Female medicine.symptom business |
| Zdroj: | Journal of Diabetes Investigation, Vol 11, Iss 3, Pp 573-577 (2020) Journal of Diabetes Investigation |
| ISSN: | 2040-1116 2040-1124 |
| Popis: | We report the identification of a mutation in the solute carrier family 5 member 2 (SLC5A2) gene, which encodes sodium–glucose cotransporter 2, in a family with familial renal glucosuria. The proband was a 26‐year‐old 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>A:p.N101K) in SLC5A2 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–glucose cotransporter 2 dysfunction. The patient showed no symptoms of hypoglycemia, but continuous glucose monitoring confirmed asymptomatic hypoglycemia. We report the identification of a heterozygous missense mutation (c.303T>A:p.N101K) in the solute carrier family 5 member 2 gene, which encodes sodium-glucose cotransporter 2, in a family with familial renal glucosuria. |
| Databáze: | OpenAIRE |
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