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Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.
Hum Mutat 1995; 5(2):113-20HM

Abstract

beta-Ketothiolase deficiency is a deficiency in mitochondrial acetoacetyl-CoA thiolase (T2). We present here an update on mutations and polymorphisms in the human T2 gene. No large deletion or insertion has been observed in Southern blot analysis. Seventeen mutations were identified in 13 T2-deficient patients: nine missense, one nonsense, and five splice-site mutations, and two small deletions. Two polymorphic base substitutions were also detected. A common mutation in T2 deficiency has not been detected but 4 mutations (N158D, Q272X, 828 + 1, 1163 + 2) were identified in two independent families. Eleven of 25 mutant alleles identified caused aberrant splicing. In vivo expression analysis of 13 mutant cDNAs using a Lipofectin reagent suggested that T297M, A301P, A380T mutant alleles retain 5-10% normal T2 activity. A correlation between clinical phenotype and genotype in T2 deficiency seems unlikely.

Authors+Show Affiliations

Department of Pediatrics, Gifu University School of Medicine, Japan.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

7749408

Citation

Fukao, T, et al. "Molecular Basis of Beta-ketothiolase Deficiency: Mutations and Polymorphisms in the Human Mitochondrial Acetoacetyl-coenzyme a Thiolase Gene." Human Mutation, vol. 5, no. 2, 1995, pp. 113-20.
Fukao T, Yamaguchi S, Orii T, et al. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. Hum Mutat. 1995;5(2):113-20.
Fukao, T., Yamaguchi, S., Orii, T., & Hashimoto, T. (1995). Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. Human Mutation, 5(2), pp. 113-20.
Fukao T, et al. Molecular Basis of Beta-ketothiolase Deficiency: Mutations and Polymorphisms in the Human Mitochondrial Acetoacetyl-coenzyme a Thiolase Gene. Hum Mutat. 1995;5(2):113-20. PubMed PMID: 7749408.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene. AU - Fukao,T, AU - Yamaguchi,S, AU - Orii,T, AU - Hashimoto,T, PY - 1995/1/1/pubmed PY - 1995/1/1/medline PY - 1995/1/1/entrez SP - 113 EP - 20 JF - Human mutation JO - Hum. Mutat. VL - 5 IS - 2 N2 - beta-Ketothiolase deficiency is a deficiency in mitochondrial acetoacetyl-CoA thiolase (T2). We present here an update on mutations and polymorphisms in the human T2 gene. No large deletion or insertion has been observed in Southern blot analysis. Seventeen mutations were identified in 13 T2-deficient patients: nine missense, one nonsense, and five splice-site mutations, and two small deletions. Two polymorphic base substitutions were also detected. A common mutation in T2 deficiency has not been detected but 4 mutations (N158D, Q272X, 828 + 1, 1163 + 2) were identified in two independent families. Eleven of 25 mutant alleles identified caused aberrant splicing. In vivo expression analysis of 13 mutant cDNAs using a Lipofectin reagent suggested that T297M, A301P, A380T mutant alleles retain 5-10% normal T2 activity. A correlation between clinical phenotype and genotype in T2 deficiency seems unlikely. SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/7749408/Molecular_basis_of_beta_ketothiolase_deficiency:_mutations_and_polymorphisms_in_the_human_mitochondrial_acetoacetyl_coenzyme_A_thiolase_gene_ L2 - https://doi.org/10.1002/humu.1380050203 DB - PRIME DP - Unbound Medicine ER -