Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Abstract

Mitochondrial acetoacetyl-CoA thiolase deficiency is an autosomal recessive disorder, characterized by intermittent ketoacidosis. We developed a multiplex ligation-dependent probe amplification method for mutation detection in the ACAT1 gene, which encodes this enzyme, and validated it using DNAs from two previously reported patients having partial deletion and duplication in this gene. Using this method, we identified a heterozygous deletion including exons 3-4 in a third patient, likely due to Alu-mediated non-equal homologous recombination between Alu sequences.

• Authors: Toshiyuki Fukao, Yuka Aoyama, Keiko Murase, Tomohiro Hori, Rajesh K Harijan, Rikkert K Wierenga, Avihu Boneh, Naomi Kondo
• Journal: Molecular genetics and metabolism (Mol Genet Metab) 2013 Sep-Oct Vol. 110 Issue 1-2 Pg. 184-7 ISSN: 1096-7206 [Electronic] United States
• PMID: 23920042 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: © 2013 Elsevier Inc. All rights reserved.

Chemical References

• Acetyl-CoA C-Acyltransferase
• ACAT1 protein, human
• Acetyl-CoA C-Acetyltransferase

Topics

• Acetyl-CoA C-Acetyltransferase (deficiency, genetics, metabolism)
• Acetyl-CoA C-Acyltransferase (deficiency)
• Adolescent
• Alu Elements (genetics)
• Amino Acid Metabolism, Inborn Errors
• Base Sequence
• Exons (genetics)
• Female
• Heterozygote
• Homologous Recombination (genetics)
• Humans
• Infant
• Male
• Mitochondria (enzymology, genetics)
• Multiplex Polymerase Chain Reaction (methods)
• Sequence Deletion (genetics)