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.
To learn about available screening for known CPT2 mutations, visit On
the Spot.
To read more about the genetics of CPT II deficiency,
visit Hand me downs
and CPT espanol.
To read about the Human Genome Project visit Location,
location, location. |
|
|
|
