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Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Authors

  • Berivan Baskin,

    Corresponding author
    1. Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
    • Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University Avenue, Toronto, ON, Canada M5G 1X8.
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  • Michael Geraghty,

    1. Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
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  • Peter N. Ray

    1. Division of Molecular Genetics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Canada
    2. Department of Molecular Genetics, The University of Toronto, Toronto, Canada
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  • How to cite this article: Baskin B, Geraghty M, Ray PN. 2010. Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Am J Med Genet Part A 152A:1808–1811.

Abstract

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation due to mutations in the HADHA gene. We report on a 22-month-old child who was identified on expanded newborn screening with an abnormal acylcarnitine pattern and increased C14OH. Molecular analysis showed that the child was homozygous for the common mutation, c.1526G > C (p.Glu510Gln) in the HADHA gene. Carrier testing on the parental samples revealed that the father was heterozygous for the mutation whereas the mother did not carry the mutation. Short tandem repeat testing with markers covering both short and long arms of chromosome 2 showed that the child has paternal uniparental isodisomy. We highlight the importance of parental testing in cases of homozygosity in autosomal recessive disorders and its impact on genetic counseling of the family. © 2010 Wiley-Liss, Inc.

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