Biallelic loss of function variant in ZNF808 is associated with non-syndromic neonatal diabetes

Clin Genet. 2023 Oct;104(4):497-498. doi: 10.1111/cge.14389. Epub 2023 Jun 12.

Authors

Mohammad Awwad Alqahtani¹, Saleh M Al-Qahtani², Yahya H Al-Falki³, Essa Alharby⁴, Obaid Mohammed Albulym⁵, Naif A M Almontashiri⁴

Affiliations

¹ Specialized Medical Complex, Abha, Saudi Arabia.
² Department of Child Health, College of Medicine, King Khalid University, Abha, Saudi Arabia.
³ Ophthalmology Department, College of Medicine, King Khalid University, Abha, Saudi Arabia.
⁴ Center for Genetics and Inherited Diseases, Taibah University, Al Madinah Al Munawwarah, Saudi Arabia.
⁵ Department of Biology, Faculty of Science, King Khalid University, Abha, Saudi Arabia.

PMID: 37308312
DOI: 10.1111/cge.14389

Abstract

A Loss-of-function variant in ZNF808 is associated with non-syndromic neonatal diabetes in a consanguineous family with three affected siblings.

Keywords: ZNF808; homozygous; loss-of-function; neonatal diabetes; recessive.

© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Publication types

Case Reports
Letter

MeSH terms

Consanguinity
Diabetes Mellitus* / genetics
Genes, Recessive
Humans
Infant, Newborn
Pedigree
Siblings

Substances

ZNF8 protein, human