Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency

• Published in: Molecular genetics and metabolism 2006-12, Vol.89 (4), p.323-331
• Main Authors: Isackson, Paul J., Bennett, Michael J., Vladutiu, Georgirene D.
• Format: Article
• Language: English
• Subjects: Amino Acid Sequence; Amino Acid Substitution; Carnitine O-Palmitoyltransferase - chemistry; Carnitine O-Palmitoyltransferase - deficiency; Carnitine O-Palmitoyltransferase - genetics; Carnitine palmitoyltransferase deficiency; DNA Mutational Analysis; Exons; Fatty acid oxidation; Humans; Lipid Metabolism, Inborn Errors - enzymology; Lipid Metabolism, Inborn Errors - genetics; Molecular Sequence Data; Mutation; Protein Conformation; Sequence; Skeletal muscle
• ISSN: 1096-7192; 1096-7206
• DOI: 10.1016/j.ymgme.2006.08.004

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.