BASIC INFORMATION ABOUT THE CDKL5 GENE DEFICIENCY

I got this from another child's site that has the CDKL5 gene deficiency.  I think it includes all of great medical information it.  


CDKL5 is a gene that is found on one of our sex chromosomes called the X chromosome. The letters are an abbreviation of the scientific name of the gene which describes what it does. The long-winded name is cyclin-dependent kinase-like 5. The CDKL5 gene was previously called STK9 and sometimes people think that the two genes might be different but they are in fact the same.

The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein's function, it may play a role in regulating the activity of other genes. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding a cluster of oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not determined which proteins are targeted by the CDKL5 protein.

Mutations in the CDKL5 gene are have been found in girls with Atypical Rett Syndrome and boys and girls with X-linked infantile spasm syndrome (ISSX), West Syndrome and early onset seizures.

To date one girl with a milder form having moderate intellectual delay and autistic features with no seizures or physical disabilities has been diagnosed.

Some CDKL5 mutations change a single protein building block (amino acid) in a region of the CDKL5 protein that is critical for its kinase function. Other mutations lead to the production of an abnormally short, nonfunctional version of the protein. Researchers are working to determine how these changes result in seizures and the characteristic features of Rett syndrome [RTT] in affected children The involvement of CDKL5 in RTT seems to be explained by the fact that it works upstream of MeCP2, the main cause of RTT.

At the moment testing for CDKL5 is limited to children with a diagnosis of Rett Syndrome who have been tested negative to the Rett Syndrome gene MECP2 and a handful of children who have severe early onset Infantile Spasms or epilepsy onset within the first few months of life.