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

Toshiyuki Fukao, Yuka Aoyama, Keiko Murase, Tomohiro Hori, Rajesh K. Harijan, Rikkert K. Wierenga, Avihu Boneh, Naomi Kondo

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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.

Original languageEnglish
Pages (from-to)184-187
Number of pages4
JournalMolecular Genetics and Metabolism
Issue number1-2
Publication statusPublished - Sep 2013
Externally publishedYes


  • Alu elements
  • Deletion
  • Mitochondrial acetoacetyl-CoA thiolase
  • MLPA
  • Recombination
  • T2

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