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

ABSTRACT:

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 monogenic diabetes: 335 with neonatal diabetes (NDM, diagnosed <6 months), 194 with infancy-onset diabetes (diagnosed 6-12 months) and 4170 diagnosed with diabetes between 1 and 60 years of age.

Findings

Through a combination of genome and targeted next-generation-sequencing, we identified 17 previously unreported individuals with biallelic loss-of-function ZNF808 v

SUBMITTER: Russ-Silsby J 

PROVIDER: S-EPMC12808904 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature