Literature DB >> 17719254

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

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

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.

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Year:  2007        PMID： 17719254     DOI： 10.1016/j.ymgme.2007.07.007

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  3 in total

1.  Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry.

Authors:  Toshiyuki Fukao; Shinsuke Maruyama; Toshihiro Ohura; Yuki Hasegawa; Mitsuo Toyoshima; Antti M Haapalainen; Naomi Kuwada; Mari Imamura; Isao Yuasa; Rik K Wierenga; Seiji Yamaguchi; Naomi Kondo
Journal:  JIMD Rep       Date:  2011-09-06

2.  Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Authors:  Yuka Aoyama; Toshiyuki Yamamoto; Naomi Sakaguchi; Mika Ishige; Toju Tanaka; Tomoko Ichihara; Katsuaki Ohara; Hiroko Kouzan; Yasutomi Kinosada; Toshiyuki Fukao
Journal:  Int J Mol Med       Date:  2015-04-14       Impact factor: 4.101

Review 3.  Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Authors:  Elsayed Abdelkreem; Rajesh K Harijan; Seiji Yamaguchi; Rikkert K Wierenga; Toshiyuki Fukao
Journal:  Hum Mutat       Date:  2019-07-03       Impact factor: 4.878
  3 in total

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