一种新的SLC5A2杂合变异家族与家族性肾性糖尿症。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2022-12-01 DOI:10.1038/s41439-022-00221-w

Maho Hatano, Tomohiro Udagawa, Toru Kanamori, Akito Sutani, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Tomohiro Morio, Masato Nishioka

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引用次数: 1

摘要

家族性肾性糖尿症(FRG)的特点是在没有明显肾小管功能障碍的情况下，尽管血糖水平正常，但仍存在持续的糖尿。SGLT2是一种在近端小管中表达的钠-葡萄糖共转运蛋白;SLC5A2的功能丧失变异是FRG的主要原因。日本人的杂合变异体很少有报道。在这里，我们在一个由两个孩子和他们的父亲组成的日本家庭中发现了一种新的SLC5A2杂合变异，c.1348G>T: p.Gly450Trp。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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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. 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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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks