How to cite this article: Verdijk RM, de Krijger R, Schoonderwoerd K, Tiranti V, Smeets H, Govaerts LCP, de Coo R. 2008. Phenotypic consequences of a novel SCO2 gene mutation. Am J Med Genet Part A.
Phenotypic consequences of a novel SCO2 gene mutation†
Article first published online: 15 OCT 2008
Copyright © 2008 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 146A, Issue 21, pages 2822–2827, 1 November 2008
How to Cite
Verdijk, R. M., de Krijger, R., Schoonderwoerd, K., Tiranti, V., Smeets, H., Govaerts, L. C.P. and de Coo, R. (2008), Phenotypic consequences of a novel SCO2 gene mutation. Am. J. Med. Genet., 146A: 2822–2827. doi: 10.1002/ajmg.a.32523
- Issue published online: 24 OCT 2008
- Article first published online: 15 OCT 2008
- Manuscript Accepted: 22 JUL 2008
- Manuscript Received: 16 JAN 2008
- Sixth Research Framework Programme of the European Union. Grant Number: 005260
- hypertrophic cardiomyopathy;
SCO2 is a cytochrome c oxidase (COX) assembly gene. Mutations in the SCO2 gene have been associated with fatal infantile cardioencephalomyopathy. We report on the phenotype of a novel SCO2 mutation in two siblings with fatal infantile cardioencephalomyopathy. The index patient died of heart failure at 25 days of age. Muscle biopsy was performed for histology and biochemical study of the oxidative phosphorylation system complexes. The entire coding region of the SCO2 gene was sequenced. Autopsy was performed on the index patient and on a female sibling delivered at 23 weeks of gestation following termination of pregnancy during which amniocentesis and genetic testing had been performed. Muscle biopsy and biochemical analysis of heart and skeletal muscle detected a severe isolated COX-IV deficiency. Pathologic findings in both patients confirmed hypertrophic cardiomyopathy. Sequencing of the SCO2 gene showed compound heterozygous mutation; the common E140K mutation and a novel W36X nonsense mutation. Newborns with a combination of hypotonia and cardiomyopathy should be evaluated for multiple congenital anomaly syndromes, inborn errors of metabolism and mitochondrial derangements, and may require extensive diagnostic testing. Mutations in the SCO2 gene are a cause of prenatal-onset hypertrophic cardiomyopathy. © 2008 Wiley-Liss, Inc.