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

EBioMedicine 2026 Open access

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Authors: James Russ‐Silsby, Kevin Colclough, Matthew B. Johnson, Matthew Neil Wakeling, Nick D. L. Owens, Shenali Anne Amaratunga, Flanagan Sarah E., Kashyap Amratlal Patel, Andrew Tym Hattersley, Elisa De Franco, Mohamed Abdullah, HESSA ALKANDARI
+23 more Zehra Aycan, Çetinkaya Semra, Nancy Samir Elbarbary, Radha Gulati Ghildiyal, Susana Gonzalez, Shaun Gorman, Samar Sabir Hassan, Savita Khadse, Jan Lebl, Jaida Manzoor, Nikhil Shah, Tara Hussein Tayeb, Alaa Al Assi, Arya Anil, Diego Balboa, Urvashi Chitnavis, Juliette Davis, Doğa Eskier, Michaël Imbeault, Santiago Morell, Sachin Muralidharan, Timo Otonkoski, Jonna M Saarimäki-Vire
DOI: 10.1016/j.ebiom.2025.106113
Cited by: 0
References: 29

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

Fields of Study & Subjects

Pancreatic function and diabetes Genomics and Rare Diseases Regulation of Appetite and Obesity

Publication details

Journal / source
EBioMedicine
Volume
124
Pages
106113–106113
Publication date
6 January 2026
Language
EN