Likely inborn error of metabolism

Gene: NDUFA3

Comment on publications: PMID:39661167 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.

Created: 26 Mar 2025, 3:12 p.m. | Last Modified: 26 Mar 2025, 3:12 p.m.

Panel Version: 7.19

PMID: 39661167 (2024) - three affected siblings presented with Leigh syndrome and compound heterozygous variants in the NDUFA3 gene (c.10+1G>T and c.66_68delCTT). The siblings showed abnormalities in muscle tone and motor and language delays, although symptoms were relatively mild. Muscle tone abnormalities worsened in one child following injury, and cranial MRI showed lesions in the basal ganglia and brainstem.

This is the first report of NDUFA3 associated with disease in humans to date and therefore additional evidence is needed before this gene can be implicated conclusively.

Created: 26 Mar 2025, 3:05 p.m. | Last Modified: 26 Mar 2025, 3:05 p.m.

Panel Version: 7.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leigh syndrome

Publications

• 39661167

I don't know

no mutation reports in literature; good candidate gene for complex I deficiency (encodes a subunit of the enzyme)

Created: 4 Feb 2016, 7 p.m.