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Article

PDX-1 related diabetes: a case series of two families highlighting challenges in MODY diagnosis.

Acta diabetologica - 1 Feb 2026

da Silva Beatriz Tavares, Pinheiro Ana Torrão, Saraiva Miguel, Soares Ana Rita, Ferreira Lia

Abstract excerpt

PDX1-MODY is a rare, dominantly inherited form of monogenic diabetes resulting from pathogenic variants in the PDX1 (IPF1) gene. It typically presents with early-onset, non-ketotic hyperglycemia and variable insulin dependence. This report describes two unrelated families carrying confirmed PDX1 variants (c.313G > T [p.Glu105*] and c.492G > T [p.Glu164Asp]) that illustrate the clinical and genetic heterogeneity...

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Identifiers

PMID: 41201616
DOI: 10.1007/s00592-025-02614-z

Genes

PDX1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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