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Article

Loss of function variants in the primate-specific gene ZNF808 cause neonatal, transient and adult-onset diabetes.

EBioMedicine - 1 Feb 2026

Russ-Silsby James, Colclough Kevin, Johnson Matthew B, Wakeling Matthew N, Owens Nick D L, Amaratunga Shenali A, Flanagan Sarah E, Patel Kashyap A, Hattersley Andrew T, De Franco Elisa

Abstract excerpt

BACKGROUND: Biallelic loss-of-function ZNF808 variants were recently identified as a cause of pancreatic agenesis characterised by insulin-treated permanent neonatal diabetes (PNDM), low birthweight and exocrine pancreatic insufficiency. METHODS: We investigated the phenotypic diversity caused by biallelic loss-of-function ZNF808 variants by screening a cohort of 4699 individuals with genetically undiagnosed...

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Identifiers

PMID: 41500078
DOI: 10.1016/j.ebiom.2025.106113
PMCID: PMC12808904

Genes

ZNF808

Provenance

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

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