Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

ABSTRACT: Biallelic variants in NADH (nicotinamide adenine dinucleotide (NAD) + hydrogen (H))-ubiquinone oxidoreductase 1 alpha subcomplex 13 have been linked to mitochondrial complex I deficiency, nuclear type 28, based on three affected individuals from two families. With only two families reported, the clinical and molecular spectrum of NADH-ubiquinone oxidoreductase 1 alpha subcomplex 13-related diseases remains unclear. We report 10 additional affected individuals from nine independent families, identifying four missense variants (including recurrent c.170G > A) and three ultra-rare or novel predicted loss-of-function biallelic variants. Updated clinical-radiological data from previously reported families and a literature review compiling clinical features of all reported patients with i

SUBMITTER: Kaiyrzhanov R 

PROVIDER: S-EPMC11832047 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature