Mitochondrial disease

Gene: NDUFA9

Green List (high evidence)

Two unrelated patients reported with different homozygous missense variants reported (PMID 28671271; PMID 22114105). PMID 22114105 reported a patient with a more severe phenotype (c.962G>C variant) than PMID 28671271 (c.1078C>T variant).

PMID 28671271 provide functional studies utilising patient-derived skin fibroblast cell lines from both reported patients. Reduced complex I activity demonstrated, more severe in the patient carrying the c.962G>C variant: 2% of control panel activity as opposed to at least 17% of control activity. Assembly defects also noted. Reduced complex I abundance and assembly defects were rescued by transfection with wild-type NDUFA9.

Created: 17 Mar 2022, 12:11 a.m. | Last Modified: 17 Mar 2022, 12:11 a.m.

Panel Version: 0.11483

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 26 - MIM#618247

Publications

• 26425749
• 28671271
• 22114105

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 26

Publications

• PMID: 28671271

Variants in this GENE are reported as part of current diagnostic practice