两名日本青年成熟型糖尿病患者的两种新型致病性PDX1变异

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2025-05-16 DOI:10.1038/s41439-025-00312-4

Satoshi Tanaka, Hiroyuki Akagawa, Michiyo Hase, Naoko Iwasaki

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引用次数: 0

摘要

青壮年型4型糖尿病（MODY4, PDX1- mody）是由PDX1基因引起的单基因糖尿病。我们检测到两个新的杂合错义变异，NM_000209.4(NP_000200.1)：443G>T, p.（Arg148Leu）和c.442C >g p.(Arg148Gly)，在两名日本患者中。致病性测试显示，这两种变异都丧失了功能。家族成员有严重的糖尿病并发症，包括增生性视网膜病变和显性肾病，如终末期肾病。实验室检查显示持续的高血糖水平，至少部分是由餐后胰岛素分泌减少引起的。

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Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young.

Maturity-onset diabetes of the young type 4 (MODY4, PDX1-MODY) is a monogenic diabetes caused by the PDX1 gene. Here we detected two novel heterozygous missense variants, NM_000209.4(NP_000200.1):c.443G>T, p.(Arg148Leu) and c.442C>G p.(Arg148Gly), in two Japanese patients. Pathogenicity testing revealed a loss of function in both variants. Family members had severe diabetic complications, including proliferative retinopathy and overt nephropathy such as end-stage renal disease. Laboratory testing indicated persistently high glucose levels, at least partially caused by reduced postprandial insulin secretion.

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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