A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria

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. Heter...

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Autores principales: Hatano, Maho, Udagawa, Tomohiro, Kanamori, Toru, Sutani, Akito, Mori, Takayasu, Sohara, Eisei, Uchida, Shinichi, Morio, Tomohiro, Nishioka, Masato
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712647/
https://www.ncbi.nlm.nih.gov/pubmed/36450716
http://dx.doi.org/10.1038/s41439-022-00221-w
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author Hatano, Maho
Udagawa, Tomohiro
Kanamori, Toru
Sutani, Akito
Mori, Takayasu
Sohara, Eisei
Uchida, Shinichi
Morio, Tomohiro
Nishioka, Masato
author_facet Hatano, Maho
Udagawa, Tomohiro
Kanamori, Toru
Sutani, Akito
Mori, Takayasu
Sohara, Eisei
Uchida, Shinichi
Morio, Tomohiro
Nishioka, Masato
author_sort Hatano, Maho
collection PubMed
description 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.
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spelling pubmed-97126472022-12-02 A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria Hatano, Maho Udagawa, Tomohiro Kanamori, Toru Sutani, Akito Mori, Takayasu Sohara, Eisei Uchida, Shinichi Morio, Tomohiro Nishioka, Masato Hum Genome Var Data Report 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. Nature Publishing Group UK 2022-12-01 /pmc/articles/PMC9712647/ /pubmed/36450716 http://dx.doi.org/10.1038/s41439-022-00221-w Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Hatano, Maho
Udagawa, Tomohiro
Kanamori, Toru
Sutani, Akito
Mori, Takayasu
Sohara, Eisei
Uchida, Shinichi
Morio, Tomohiro
Nishioka, Masato
A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria
title A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria
title_full A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria
title_fullStr A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria
title_full_unstemmed A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria
title_short A novel SLC5A2 heterozygous variant in a family with familial renal glucosuria
title_sort novel slc5a2 heterozygous variant in a family with familial renal glucosuria
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712647/
https://www.ncbi.nlm.nih.gov/pubmed/36450716
http://dx.doi.org/10.1038/s41439-022-00221-w
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