Mitochondrial disease

Gene: NDUFAF1

Green List (high evidence)

PMID: 24963768 - authors report a case of leukodystrophy associated with mitochondrial complex I deficiency due to compound heterozygous NDUFAF1 variants.

PMID 21931170 - compound heterozygous missense variants identified in a patient with fatal infantile hypertrophic cardiomyopathy (c.631C>T; p.Arg211Cys and c.733G>A; p.Gly245Arg). Functional studies demonstrated a severe reduction in NDUFAF1 protein in Western blots of patient fibroblasts and accumulation of abnormal complex I assembly intermediates on Blue Native polyacrylamide gel electrophoresis.

PMID 34975718 - report a family with 3 children affected by hearing/visual impairment, infantile developmental delay and peripheral neuropathy. All 3 children had compound heterozygous NDUFAF1 variants and homozygous GALC variants. Deficient galactocerebrosidase activity and mitochondrial complex enzyme activity changes were noted on functional studies with the authors postulating a synergistic mechanism for the patients' phenotypes.

Created: 17 Mar 2022, 6:52 a.m. | Last Modified: 17 Mar 2022, 6:52 a.m.

Panel Version: 0.715

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234

Publications

• 17557076
• 21931170
• 16218961
• 24963768
• 34975718

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal