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<p>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 &gt; T [p.Glu105*] and c.492G &gt; T [p.Glu164Asp]) that illustrate the clinical and genetic heterogeneity of PDX1-MODY. Comprehensive next-generation sequencing (NGS) including a 36-gene panel for monogenic diabetes confirmed the variants, which were classified according to ACMG/AMP 2015 guidelines as “pathogenic” (p.Glu105)* and “likely pathogenic” (p.Glu164Asp). Clinically, both pedigrees exhibited preserved C-peptide secretion over decades, absence of autoimmune markers, and progressive β-cell dysfunction, confirming the variable but characteristic phenotype of PDX1-MODY. These cases expand the mutational and phenotypic spectrum of PDX1-MODY and highlight the importance of considering monogenic diabetes in early-onset, antibody-negative cases.</p>

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

  • 期刊论文

  • 发表日期：

    2025年11月7日

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

摘要

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 of PDX1-MODY. Comprehensive next-generation sequencing (NGS) including a 36-gene panel for monogenic diabetes confirmed the variants, which were classified according to ACMG/AMP 2015 guidelines as “pathogenic” (p.Glu105)* and “likely pathogenic” (p.Glu164Asp). Clinically, both pedigrees exhibited preserved C-peptide secretion over decades, absence of autoimmune markers, and progressive β-cell dysfunction, confirming the variable but characteristic phenotype of PDX1-MODY. These cases expand the mutational and phenotypic spectrum of PDX1-MODY and highlight the importance of considering monogenic diabetes in early-onset, antibody-negative cases.