More than 40 disease-causing mutations have currently been found in the CPT2 gene. In addition, three polymorphisms–or “harmless” mutations–have been identified in the gene: V368I, M647V, and F352C.
Single polymorphisms do not cause disease, but when combined with other polymorphisms or known disease-causing mutations, they have the potential to reduce enzyme levels and contribute to symptoms.
One CPT2 polymorphism–known as F352C–was initially reported as a disease-causing mutation, but it is now thought to be harmless unless combined with other CPT2 mutations. It has been found only in Japanese populations.
The other two CPT2 polymorphisms–V368I and M647V–have been found in general populations.
Reference:
Hum Mol Genet 1993 Mar; 2(3):334
Related links:
Genomics of the human carnitine acyltransferase genes
Human Gene Mutation Database
List of 20 CPT2 mutations with references, mutation type and links to other technical information about CPT.
CPT II Tutorial
Interactive tutorial written by Marcel Blanchaer, M.D., and based on a family with the S113L mutation. Includes a family pedigree that traces the S113L mutation through three generations.
What is a genetic disease?
University of Utah site.
What is a genetic disorder?
MDA Q & A page.
Mutation and human genetic disease
Interesting article by James R. Lupski, M.D., Ph.D.
Types of mutations
Technical information on deletions, insertions, substitutions, duplications, and translocations.
How are genetic disorders inherited?
Thorough article from the MDA Quest magazine that explains dominant and recessive inheritance. Includes good diagrams and stories of real families with genetic disorders.
For more information, please see the doctor patient relationship.