title: Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
abstract: We describe respiratory chain complex IV deficiency (cytochrome c oxidase deficiency) in a female infant with a neonatal rapidly progressive fatal course characterized by microcephaly, encephalopathy, persistent lactic acidosis, and hypertrophic cardiomyopathy. Postmortem cardiac muscle study showed marked complex IV deficiency. In contrast, complex IV activity was only slightly decreased in the skeletal muscle. Subsequent molecular investigations showed compound heterozygosity for two known pathogenic mutations in the COX15 gene. We compare the findings in our patient to those of the three previously reported cases.
authors.affiliation: Department of Paediatrics, Children's and Women's Health Centre, Vancouver, British Columbia, Canada.
authors.forename: Majid
authors.initials: M
authors.lastname: Alfadhel
authors.forename: Yolanda P
authors.initials: YP
authors.lastname: Lillquist
authors.forename: Paula J
authors.initials: PJ
authors.lastname: Waters
authors.forename: Graham
authors.initials: G
authors.lastname: Sinclair
authors.forename: Eduard
authors.initials: E
authors.lastname: Struys
authors.forename: Deborah
authors.initials: D
authors.lastname: McFadden
authors.forename: Glenda
authors.initials: G
authors.lastname: Hendson
authors.forename: Lauren
authors.initials: L
authors.lastname: Hyams
authors.forename: John
authors.initials: J
authors.lastname: Shoffner
authors.forename: Hilary D
authors.initials: HD
authors.lastname: Vallance
mesh_terms: D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis / Q000235:genetics*; D030401:Cytochrome-c Oxidase Deficiency / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D045222:Electron Transport Chain Complex Proteins / Q000378:metabolism; D003576:Electron Transport Complex IV / Q000235:genetics*; D005260:Female; D006331:Heart Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics; D009206:Myocardium / Q000473:pathology
chemical_list: D045222:Electron Transport Chain Complex Proteins; C548296:COX15 protein, human; D003576:Electron Transport Complex IV