Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

Toshiyuki Fukao; Gaixiu Zhang; Marie-Odile Rolland; Marie-Therese Zabot; Nathalie Guffon; Yusuke Aoki; Naomi Kondo

doi:10.1016/j.ymgme.2007.07.007

Identification of an Alu-mediated tandem duplication of exons 8 and 9 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

Mol Genet Metab. 2007 Dec;92(4):375-8. doi: 10.1016/j.ymgme.2007.07.007. Epub 2007 Aug 23.

Authors

Toshiyuki Fukao¹, Gaixiu Zhang, Marie-Odile Rolland, Marie-Therese Zabot, Nathalie Guffon, Yusuke Aoki, Naomi Kondo

Affiliation

¹ Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu 501-1194, Japan. toshi-gif@umin.net

PMID: 17719254
DOI: 10.1016/j.ymgme.2007.07.007

Abstract

A tandem repeat of exons 8 and 9 was identified in the cDNA for mitochondrial acetoacetyl-CoA thiolase (T2) in a typical T2 deficient patient. Routine mutation analysis using PCR at the genomic level had failed to identify any mutations. Alu element-mediated unequal homologous recombination between an Alu-Jo in intron 7 and another Alu-Jo in intron 9 appears to be responsible for this duplication.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Acetyl-CoA C-Acetyltransferase / deficiency*
Acetyl-CoA C-Acetyltransferase / genetics
Alu Elements / genetics*
DNA Mutational Analysis
Exons / genetics*
Female
Gene Duplication*
Genome, Human / genetics
Humans
Mitochondrial Diseases / genetics*
Polymerase Chain Reaction
Recombination, Genetic

Substances

Acetyl-CoA C-Acetyltransferase