title: Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
abstract: The exonic regions of the carnitine palmitoyltransferase 2 (CPT2) gene were characterized from 101 patients with defined clinical and biochemical evidence for the adult onset form of CPT II deficiency and in 2 patients detected as newborns with abnormal acylcarnitine profiles. Twenty-seven disease-causing mutations within the CPT2 gene were identified in this cohort, 16 of which were novel. A total of 60 disease-causing mutations have been identified to date in CPT2 and 41 of these are predicted to produce amino acid substitution/deletions. The implications of these mutations are described in light of recent advances in our understanding of the molecular structure of members of the carnitine acyltransferase family.
authors.affiliation: Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14209, USA.
authors.forename: Paul J
authors.initials: PJ
authors.lastname: Isackson
authors.forename: Michael J
authors.initials: MJ
authors.lastname: Bennett
authors.forename: Georgirene D
authors.initials: GD
authors.lastname: Vladutiu
mesh_terms: D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D002334:Carnitine O-Palmitoyltransferase / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D011487:Protein Conformation
chemical_list: D002334:Carnitine O-Palmitoyltransferase