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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.
Mol Genet Metab 2013 Sep-Oct; 110(1-2):184-7MG

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+Show Affiliations

Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido 1-1, Gifu 501-1194, Japan. toshi-gif@umin.netNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23920042

Citation

Fukao, Toshiyuki, et al. "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." Molecular Genetics and Metabolism, vol. 110, no. 1-2, 2013, pp. 184-7.
Fukao T, Aoyama Y, Murase K, et al. 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. Mol Genet Metab. 2013;110(1-2):184-7.
Fukao, T., Aoyama, Y., Murase, K., Hori, T., Harijan, R. K., Wierenga, R. K., ... Kondo, N. (2013). 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. Molecular Genetics and Metabolism, 110(1-2), pp. 184-7. doi:10.1016/j.ymgme.2013.07.004.
Fukao T, et al. 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. Mol Genet Metab. 2013;110(1-2):184-7. PubMed PMID: 23920042.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. AU - Fukao,Toshiyuki, AU - Aoyama,Yuka, AU - Murase,Keiko, AU - Hori,Tomohiro, AU - Harijan,Rajesh K, AU - Wierenga,Rikkert K, AU - Boneh,Avihu, AU - Kondo,Naomi, Y1 - 2013/07/14/ PY - 2013/06/04/received PY - 2013/07/08/revised PY - 2013/07/08/accepted PY - 2013/8/8/entrez PY - 2013/8/8/pubmed PY - 2014/3/19/medline KW - Alu elements KW - Deletion KW - MLPA KW - Mitochondrial acetoacetyl-CoA thiolase KW - Recombination KW - T2 SP - 184 EP - 7 JF - Molecular genetics and metabolism JO - Mol. Genet. Metab. VL - 110 IS - 1-2 N2 - 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. SN - 1096-7206 UR - https://www.unboundmedicine.com/medline/citation/23920042/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_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(13)00229-1 DB - PRIME DP - Unbound Medicine ER -