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两名日本青年成年发病型糖尿病患者中发现两种新型致病性PDX1变体。

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

作者信息

Tanaka Satoshi, Akagawa Hiroyuki, Hase Michiyo, Iwasaki Naoko

机构信息

Institute for Comprehensive Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.

Diabetes and Metabolism, School of Medicine, Tokyo Women's Medical University, Tokyo, Japan.

出版信息

Hum Genome Var. 2025 May 16;12(1):8. doi: 10.1038/s41439-025-00312-4.

DOI:10.1038/s41439-025-00312-4
PMID:40379627
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12084518/
Abstract

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.

摘要

青年型成年发病型糖尿病4型（MODY4，PDX1-MODY）是一种由PDX1基因引起的单基因糖尿病。我们在两名日本患者中检测到两个新的杂合错义变体，NM_000209.4(NP_000200.1):c.443G>T，p.(Arg148Leu)和c.442C>G p.(Arg148Gly)。致病性测试显示这两个变体均功能丧失。家庭成员患有严重的糖尿病并发症，包括增殖性视网膜病变和诸如终末期肾病等明显的肾病。实验室检测表明血糖水平持续居高不下，至少部分原因是餐后胰岛素分泌减少。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe63/12084518/0e7be7586342/41439_2025_312_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe63/12084518/0e7be7586342/41439_2025_312_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fe63/12084518/0e7be7586342/41439_2025_312_Fig1_HTML.jpg

相似文献

[1]
Two novel pathogenic PDX1 variants in two Japanese patients with maturity-onset diabetes of the young.

Hum Genome Var. 2025-5-16

[2]
First Japanese Family With -MODY (MODY4): A Novel Frameshift Mutation, Clinical Characteristics, and Implications.

J Endocr Soc. 2021-10-17

[3]
PDX1-MODY: A rare missense mutation as a cause of monogenic diabetes.

Eur J Med Genet. 2021-5

[4]
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.

Clin Genet. 2017-7-19

[5]
Prevalence and Clinical Characteristics of PDX1 Variant Induced Diabetes in Chinese Early-Onset Type 2 Diabetes.

J Clin Endocrinol Metab. 2023-11-17

[6]
Novel pathogenic gene variant in a Korean family with maturity-onset diabetes of the young.

Cold Spring Harb Mol Case Stud. 2023-12

[7]
Maturity onset diabetes of the young in India - a distinctive mutation pattern identified through targeted next-generation sequencing.

Clin Endocrinol (Oxf). 2015-4

[8]
A case of maturity-onset diabetes of the young type 4 in Korea.

Ann Pediatr Endocrinol Metab. 2023-6

[9]
Identification of candidate gene variants of monogenic diabetes using targeted panel sequencing in early onset diabetes patients.

BMJ Open Diabetes Res Care. 2021-6

[10]
Coinheritance of HNF1A and glucokinase variants in maturity-onset diabetes of the young.

Endocrinol Diabetes Metab Case Rep. 2024-8-1

本文引用的文献

[1]
First Japanese Family With -MODY (MODY4): A Novel Frameshift Mutation, Clinical Characteristics, and Implications.

J Endocr Soc. 2021-10-17

[2]
Factors Associated with Risk of Diabetic Complications in Novel Cluster-Based Diabetes Subgroups: A Japanese Retrospective Cohort Study.

J Clin Med. 2020-7-2

[3]
Effect of postprandial hyperglycemia at clinic visits on the incidence of retinopathy in patients with type 2 diabetes: An analysis using real-world long-term follow-up data.

J Diabetes Investig. 2020-7

[4]
Point mutations in the PDX1 transactivation domain impair human β-cell development and function.

Mol Metab. 2019-3-20

[5]
Genome-wide analysis of PDX1 target genes in human pancreatic progenitors.

Mol Metab. 2018-1-31

[6]
Epidemiology of diabetic retinopathy, diabetic macular edema and related vision loss.

Eye Vis (Lond). 2015-9-30

[7]
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. 2015-5

[8]
Binding polymorphism in the DNA bound state of the Pdx1 homeodomain.

PLoS Comput Biol. 2013-8-8

[9]
Exome sequencing as a tool for Mendelian disease gene discovery.

Nat Rev Genet. 2011-9-27

[10]
MODY: history, genetics, pathophysiology, and clinical decision making.

Diabetes Care. 2011-8

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