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.
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency†
Article first published online: 25 JUN 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 7, pages 1808–1811, July 2010
How to Cite
Baskin, B., Geraghty, M. and Ray, P. N. (2010), Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Am. J. Med. Genet., 152A: 1808–1811. doi: 10.1002/ajmg.a.33462
- Issue published online: 25 JUN 2010
- Article first published online: 25 JUN 2010
- Manuscript Accepted: 25 FEB 2010
- Manuscript Received: 2 DEC 2009
- uniparental disomy;
- chromosome 2;
- long chain 3-hydroxyacyl-CoA dehydrogenase
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.