Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants.

ABSTRACT:

Background

Recessive loss-of-function NARS2 variants causing the multi-system disorder Combined oxidative phosphorylation deficiency 24 (COXPD24) have recently been reported in 3 individuals with diabetes diagnosed between 3 days and 14 months of age. In this study, we investigate the presence of NARS2 variants in a large cohort of individuals with early-onset diabetes.

Methods

We used genome and targeted next-generation sequencing to screen for rare, coding biallelic NARS2 variants in a cohort of 397 individuals diagnosed with diabetes <24 months of age of unknown genetic cause.

Results

We identified 8 individuals with homozygous disease-causing missense variants in NARS2 (4 individuals with the p.(Phe216Leu) variant, 3 with p.(Thr180Asn) and one with p.(Val440Leu)).

SUBMITTER: Donis R 

PROVIDER: S-EPMC12535310 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature