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.
Original language | English (US) |
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Pages (from-to) | 184-187 |
Number of pages | 4 |
Journal | Molecular Genetics and Metabolism |
Volume | 110 |
Issue number | 1-2 |
DOIs | |
State | Published - Sep 2013 |
Externally published | Yes |
Keywords
- Alu elements
- Deletion
- MLPA
- Mitochondrial acetoacetyl-CoA thiolase
- Recombination
- T2
ASJC Scopus subject areas
- Endocrinology, Diabetes and Metabolism
- Biochemistry
- Molecular Biology
- Genetics
- Endocrinology