Phenotypic consequences of a novel SCO2 gene mutation

American Journal of Medical Genetics, Part A

Volumn 146, Issue 21, 2008, Pages 2822-2827

  Verdijk, Rob M ^a,d   De Krijger, Ronald ^a   Schoonderwoerd, Kees ^a   Tiranti, Valeria ^b   Smeets, Hubert ^c   Govaerts, Lutgarde C P ^a   De Coo, René ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b IRCC Foundation   (Italy)

^c MAASTRICHT UNIVERSITY   (Netherlands)

^d JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

Author keywords

Cardiomyopathy; Encephalopathy; Genetics; Hypertrophic cardiomyopathy; Hypotonia; Mitochondria; Neurology; Pathology

Indexed keywords

CYTOCHROME C OXIDASE; DNA;

AMNIOCENTESIS; ARTICLE; AUTOPSY; CARDIOMYOPATHY; CASE REPORT; ENCEPHALOMYOPATHY; FETUS; GENE; GENE MUTATION; GENETIC COUNSELING; HEART MUSCLE; HISTOLOGY; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; INFANT DISEASE; MALE; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREGNANCY TERMINATION; PRIORITY JOURNAL; PROTON NUCLEAR MAGNETIC RESONANCE; SCO2 GENE; SIBLING;

BASE SEQUENCE; BRAIN DISEASES; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; CODON, NONSENSE; DNA PRIMERS; FATAL OUTCOME; FEMALE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MITOCHONDRIAL PROTEINS; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PRENATAL DIAGNOSIS;

EID: 55949122470     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32523     Document Type: Article

References (14)

1. Bohm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuc D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J. 2006. Retrospective, multicentric study of 180 children with cytochrome c oxidase deficiency. Pediatr Res 59:21-26.
2. Dickinson EK, Adams DL, Schon EA, Glerum DM. 2000. A human SCO2 mutation helps define the role of Sco1p in the cytochrome oxidase assembly pathway. J Biol Chem 275:26780-26785.
3. Freisinger P, Horvath R, Macmillan C, Peters J, Jaksch M. 2004. Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: Is there a potential effect of copper? J Inherit Metab Dis 27:67-79.
4. Jaksch M, Ogilvie I, Yao J, Kortenhaus G, Bresser HG, Gerbitz KD, Shoubridge EA. 2000. Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum Mol Genet 9:795-801.
5. Jaksch M, Horvath R, Horn N, Auer DP, Macmillan C, Peters J, Gerbitz KD, KraegelohMann I, Muntau A, Karcagi V, Kalmanchey R, Lochmuller H, Shoubridge EA, Freisinger P. 2001. Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology 57:1440-1446.
6. Knuf M, Faber J, Huth RG, Freisinger P, Zepp F, Kampmann C. 2007. Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy. Acta Paediatr 96:130-132.
7. Leary SC, Mattman A, Wai T, Koehn DC, Clarke LA, Chan S, Lomax B, Eydoux P, Vallance HD, Shoubridge EA. 2006. A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy. Mol Genet Metab 89:129-133.
8. Leary SC, Cobine PA, Kaufman BA, Guercin GH, Mattman A, Palaty J, Lockitch G, Winge DR, Rustin P, Horvath R, Shoubridge EA. 2007. The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis. Cell Metab 5:9-20.
9. Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA. 1999. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat Genet 23:333-337.
10. Sacconi S, Salviati L, Sue CM, Shanske S, Davidson MM, Bonilla E, Naini AB, De Vivo DC, DiMauro S. 2003. Mutation screening in patients with isolated cytochrome c oxidase deficiency. Pediatr Res 53:224-230.
11. Salviati L, Sacconi S, Rasalan MM, Kronn DF, Braun A, Canoll P, Davidson M, Shanske S, Bonilla E, Hays AP, Schon EA, DiMauro S. 2002. Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease. Arch Neurol 59:862-865.
12. Tarnopolsky MA, Bourgeois JM, Fu MH, Kataeva G, Shah J, Simon DK, Mahoney D, Johns D, Mackay N, Robinson BH. 2004. Novel SCO2 mutation (G1521A) presenting as a Spinal Muscular Atrophy type I phenotype. Am J Med Genet Part A 125A:310-314.
13. Tay SK, Shanske S, Kaplan P, DiMauro S. 2004. Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality. Arch Neurol 61:950-952.
14. Vesela K, Hansikova H, Tesarova M, Martasek P, Elleder M, Houstek J, Zeman J. 2004. Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene. Acta Paediatr 93:1312-1317.