Phenotypic consequences of a novel SCO2 gene mutation

Rob M. Verdijk, Ronald De Krijger, Kees Schoonderwoerd, Valeria Tiranti, Hubert Smeets, Lutgarde C P Govaerts, René De Coo

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)2822-2827
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number21
DOIs
Publication statusPublished - Nov 1 2008

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Fingerprint Dive into the research topics of 'Phenotypic consequences of a novel SCO2 gene mutation'. Together they form a unique fingerprint.

Cite this