Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes
Authors' conclusion
Our findings show that recessive PDX1 variants can cause a syndromic form of NDM, highlighting the need for clinical assessment of extrapancreatic features in individuals with NDM caused by PDX1 variants.
Study context
- Population
- Individuals with NDM resulting from biallelic disease-causing PDX1 variants
- Participants
- 19 individuals
- Outcome
- Phenotypic features
Main finding
As reported in the abstract
Exocrine insufficiency requiring replacement therapy
8
42%
Extrapancreatic features
12
63.2%
Conditions affecting the duodenum and/or hepatobiliary tract
8
42%
Observational data: associations, not effects.
Original publication
Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes. BMJ Open Diabetes Res Care. Published 14 November 2024. doi:10.
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