CDKL5 - Mutations


CDKL5 is associated with Rett syndrome (though much less frequently than MECP2). At least 10 mutations in the CDKL5 gene have been identified in girls with an atypical form of Rett syndrome known as the early-onset seizure variant. This severe form of the disorder includes many of the features of classic Rett syndrome (including developmental problems, loss of language skills, and repeated hand wringing or hand washing movements), but also causes recurrent seizures beginning in infancy. 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 in affected children.

Mutations in the CDKL5 gene also cause a disorder called X-linked infantile spasm syndrome (ISSX) or West syndrome. Like the early-onset seizure variant of Rett syndrome, X-linked infantile spasm syndrome is characterized by recurrent seizures that begin in infancy. Children with this condition also have severe to profound intellectual disability and may have other brain abnormalities. The CDKL5 mutations responsible for X-linked infantile spasm syndrome lead to the production of an abnormally short, nonfunctional version of the CDKL5 protein. It remains uncertain how these defects cause seizures and intellectual disability.

Read more about this topic:  CDKL5

Other articles related to "mutations, mutation":

Sequenom - MassARRAY Analyzer 4
... Version 3 – "core" set interrogates ~450 mutations in 35 genes ... An "extended" set interrogates ~700 mutations in 113 genes ... Sequenom OncoCarta(OncoMap) identifies 396 unique "druggable" or "actionable" mutations in 33 cancer genes ...
Somatic Evolution In Cancer - Somatic Evolution in Therapeutic Resistance - Resistance To BCR-ABL Targeting Drugs
... myeloid leukemia, resistance often develops through a mutation that changes the shape of the binding site of the drug ... Sequential application of drugs can lead to the sequential evolution of resistance mutations to each drug in turn ... and can be used to control gastrointestinal stromal tumors (GISTs) that are driven by mutations in c-KIT ...
Trinucleotide Repeat Disorders - Genetics - Why Three Nucleotides?
... the genome, and therefore repeats that are not multiples of three could cause frameshift mutations ... If the frameshift mutations altered the expression of developmentally obligatory pathways, then non-trinucleotide repeats may be masked by developmental lethality ... Mutations of 3 base pairs, on the other hand, do not cause a catastrophic frameshift mutation, and unless a stop codon (TAG, TAA, TGA) is the triplet that is added to the gene - which would in almost all cases render ...
Synthetic Lethality
... Synthetic lethality arises when a combination of mutations in two or more genes leads to cell death, whereas a mutation in only one of these genes does not, and by itself is said to be viable In a ... stability despite genetic variation, environmental changes and random events such as mutations ... Since synthetic lethal mutations are inherently inviable, common approaches are to employ temperature sensitive mutations or put mutations under the control of a regulated promoter to allow exploration of ...