A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.
Cytochrome c oxidase (COX) deficiency is a frequent cause of mitochondrial disease in infants. Mutations in the COX assembly gene SCO2 cause fatal infantile cardioencephalomyopathy. All patients reported to date with SCO2 deficiency share a common p.E140K mutation in at least 1 allele. In order to further the understanding of the genotype-phenotype spectrum associated with fatal infantile cardioencephalomyopathy, we describe a novel homozygous SCO2 mutation p.G193S in a patient with fatal infantile cardioencephalomyopathy born to consanguineous parents of Indian ancestry.
Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA. bretmobley@gmail.com
B C
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Mobley
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Enns
L-J
LJ
Wong
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H
Vogel
D019883:Alkyl and Aryl Transferases / Q000235:genetics; D001483:Base Sequence; D009202:Cardiomyopathies / Q000235:genetics* / Q000473:pathology; D002352:Carrier Proteins / Q000235:genetics*; D003241:Consanguinity; D004579:Electron Transport; D003576:Electron Transport Complex IV; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000473:pathology; D024101:Mitochondrial Proteins / Q000235:genetics*; D018832:Molecular Chaperones; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D012689:Sequence Homology, Nucleic Acid
D002352:Carrier Proteins; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D018832:Molecular Chaperones; C489345:SCO1 protein, human; C400285:SCO2 protein, human; C092928:Surf-1 protein; C490115:COX10 protein, human; D003576:Electron Transport Complex IV; D019883:Alkyl and Aryl Transferases