Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD View Full Text


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Article Info

DATE

2015-08

AUTHORS

Peter J. Shepard, Bruce A. Barshop, Matthias R. Baumgartner, John-Bjarne Hansen, Kristen Jepsen, Erin N. Smith, Kelly A. Frazer

ABSTRACT

PURPOSE: 3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay, failure to thrive, hemiparesis, muscular hypotonia, and multiple sclerosis. Implementation of newborn screening for MCCD has resulted in broadening the range of phenotypic expression to include asymptomatic adults. The purpose of this study was to identify factors underlying the varying phenotypes of MCCD. METHODS: We performed exome sequencing on DNA from 33 cases and 108 healthy controls. We examined these data for associations between either MCC mutational status, genetic ancestry, or consanguinity and the absence or presence/specificity of clinical symptoms in MCCD cases. RESULTS: We determined that individuals with nonspecific clinical phenotypes are highly inbred compared with cases that are asymptomatic and healthy controls. For 5 of these 10 individuals, we discovered a homozygous damaging mutation in a disease gene that is likely to underlie their nonspecific clinical phenotypes previously attributed to MCCD. CONCLUSION: Our study shows that nonspecific phenotypes attributed to MCCD are associated with consanguinity and are likely not due to mutations in the MCC enzyme but result from rare homozygous mutations in other disease genes.Genet Med 17 8, 660-667. More... »

PAGES

660

References to SciGraph publications

  • 2002-03. Leukodystrophy and CSF Purine Abnormalities Associated with Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency in METABOLIC BRAIN DISEASE
  • 2012-11. Birth prevalence of disorders detectable through newborn screening by race/ethnicity in GENETICS IN MEDICINE
  • 2009-10. Enrichment of sequencing targets from the human genome by solution hybridization in GENOME BIOLOGY
  • 1999-08. Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency in EUROPEAN JOURNAL OF PEDIATRICS
  • 2003-07. Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2003. Disorders of Leucine Metabolism in PHYSICIAN’S GUIDE TO THE LABORATORY DIAGNOSIS OF METABOLIC DISEASES
  • 1987-06. Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency presenting at age 20 months with sopor, hypoglycaemia and ketoacidosis in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2012-12. 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals in ORPHANET JOURNAL OF RARE DISEASES
  • 1982-07. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs in EUROPEAN JOURNAL OF PEDIATRICS
  • 2005-04. Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: Early-onset necrotizing encephalopathy with lethal outcome in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2014-02. Genetic ancestry of participants in the National Children’s Study in GENOME BIOLOGY
  • 1998-02. Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure in EUROPEAN JOURNAL OF PEDIATRICS
  • 2005-05. Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1992-11. Isolated biotin-resistant deficiency of 3-methylcrotonyl-CoA carboxylase presenting as a clinically severe form in a newborn with fatal outcome in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1995-09. Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2011-05. A framework for variation discovery and genotyping using next-generation DNA sequencing data in NATURE GENETICS
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/gim.2014.157

    DOI

    http://dx.doi.org/10.1038/gim.2014.157

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1003953419

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25356967


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