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Article Abstract
Introduction: Biallelic variants are a rare cause of isolated pancreatic agenesis and neonatal diabetes (NDM) without exocrine pancreatic insufficiency, with 17 cases reported in the literature.
Research Design And Methods: To determine the phenotypic variability caused by this rare genetic aetiology, we investigated 19 individuals with NDM resulting from biallelic disease-causing variants.
Results: Of the 19 individuals, 8 (42%) were confirmed to have exocrine insufficiency requiring replacement therapy. Twelve individuals (63.2%) had extrapancreatic features, including 8 (42%) with conditions affecting the duodenum and/or hepatobiliary tract. Defects in duodenum development are consistent with previous ablation studies in mice which showed abnormal rostral duodenum development.
Conclusions: Our findings show that recessive variants can cause a syndromic form of NDM, highlighting the need for clinical assessment of extrapancreatic features in individuals with NDM caused by variants.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11575358 | PMC |
| http://dx.doi.org/10.1136/bmjdrc-2024-004439 | DOI Listing |
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