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 testin...

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Published inHuman genome variation Vol. 12; no. 1; pp. 8 - 4
Main Authors Tanaka, Satoshi, Akagawa, Hiroyuki, Hase, Michiyo, Iwasaki, Naoko
Format Journal Article
LanguageEnglish
Published London Nature Publishing Group UK 16.05.2025
Springer Nature B.V
Nature Publishing Group
Subjects
631/208/2489/144
692/163/2743/137
Age
Biomedical and Life Sciences
Biomedicine
Body mass index
Data Report
Diabetes
Diabetes mellitus
Diabetic retinopathy
End-stage renal disease
Families & family life
Gene Expression
Gene Function
Gene Therapy
Glucose
Human Genetics
Insulin
Insulin secretion
Kidney diseases
Molecular Medicine
Nephropathy
Pathogenicity
Peptides
Retinopathy
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Summary: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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ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-025-00312-4