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

Beatriz Tavares da Silva1, Ana Torrão Pinheiro2, Miguel Saraiva2

  • 1Division of Endocrinology, Local Health Unit of Santo António, Centro Hospitalar Universitário de Santo António, Largo Prof. Abel Salazar, 4099-001, Porto, Portugal. beatriztavaresdasilva.md@gmail.com.

Acta Diabetologica
|November 7, 2025
PubMed

Insights

PDX1-MODY, a rare genetic diabetes, shows significant clinical and genetic diversity. Understanding these PDX1 gene variants is crucial for diagnosing early-onset diabetes.

Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • PDX1-MODY is a rare, dominantly inherited monogenic diabetes caused by PDX1 (IPF1) gene variants.
  • It characteristically presents with early-onset, non-ketotic hyperglycemia and variable insulin needs.

Purpose of the Study:

  • To investigate the clinical and genetic heterogeneity of PDX1-MODY.
  • To expand the understanding of the PDX1-MODY mutational and phenotypic spectrum.

Main Methods:

  • Next-generation sequencing (NGS) using a 36-gene panel for monogenic diabetes.
  • Variant classification according to ACMG/AMP 2015 guidelines.

Main Results:

  • Two unrelated families with confirmed PDX1 variants (p.Glu105* and p.Glu164Asp) were identified.
  • Both pedigrees demonstrated preserved C-peptide secretion, absence of autoimmune markers, and progressive beta-cell dysfunction.
  • Variants were classified as "pathogenic" and "likely pathogenic".

Conclusions:

  • These cases highlight the clinical and genetic heterogeneity of PDX1-MODY.
  • The findings underscore the importance of considering monogenic diabetes in antibody-negative, early-onset hyperglycemia cases.
Keywords:
Case seriesEarly-onset diabetesGenetic testingMODYMonogenic diabetesPDX1

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