Prepair 1000+

Gene: COX10

Green List (high evidence)

Mitochondrial complex IV deficiency nuclear type 3 (MC4DN3) is an autosomal recessive multisystem metabolic disorder with a highly variable phenotype. Some patients present with encephalomyopathic features in early infancy, whereas others may present later in infancy or the first years of life after normal early development. Affected individuals show hypotonia, failure to thrive, and developmental delay or regression with poor eye contact and loss of motor skills with ataxia. Additional features observed in some patients include proximal renal tubulopathy, macrocytic anemia, sensorineural hearing loss, nystagmus, and hypertrophic cardiomyopathy, consistent with systemic involvement. Brain imaging in most patients shows lesions consistent with Leigh syndrome (see 256000). Laboratory studies show increased serum lactate and decreased levels and activity of mitochondrial respiratory complex IV. Most patients die in infancy.

HGNC approved symbol/name: COX10
Is the phenotype(s) severe and onset <18yo?: Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes (>5)

Note: ClinGen gene-disease validity is cox10-mitochondrial disease

Created: 17 Dec 2024, 3:20 a.m. | Last Modified: 17 Dec 2024, 3:20 a.m.

Panel Version: 1.836

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046

Publications

• 10767350
• 12928484
• 15455402
• 27290639