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

• Published in: Human genome variation Vol. 12; no. 1; pp. 8 - 4
• Main Authors: Tanaka, Satoshi, Akagawa, Hiroyuki, Hase, Michiyo, Iwasaki, Naoko
• Format: Journal Article
• Language: English
• 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

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...