Contact other families
Any families who would like to be on contact with others who have children with mutations in eEF1A2 are welcome to join a Facebook group set up by Kari Haldeman. Kari has a child with the condition- you can find her at karihaldeman23 at verizon dot net.
What does my child’s genetic information mean?
A diagnosis information sheet will contain a lot of letters and numbers that often look very similar to each other, and that can be quite confusing. Often there will be an acronym like EIEE33, which is really just a way of describing the clinical diagnosis for your child that is also specific for the gene involved. So, EIEE means “early infantile epileptic encephalopathy” and 33 is used when the cause is a variant in the EEF1A2 gene (similarly, if a child has the same clinical picture but the mutation is in, say, KCNB1, the sheet will say EIEE26). Other possible diagnoses associated with EEF1A2 are “EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy” or MRD38 (mental retardation, autosomal dominant 38- not wording that most of us would use).
The variant that your child has in EEF1A2 will be described in two ways, usually. The first is the change that has been found in the DNA, for example “c.370G>A”. This means that one nucleotide (a building block of DNA) at position 370 is a G (guanine) when it should be an A (adenine). DNA is really a code found in all cells that tells them exactly what proteins to make.
The other way of writing a genetic variant is to describe what the DNA change means in terms of the EEF1A2 protein, which is the molecule that actually does the work in the cell. In the case of the example above, c.370G>A, this variant results in a change in the protein called “E124K”. This means that there is a change in the protein at position 124 which changes one of the amino acids from an E (glutamic acid) to a K (lysine). Unfortunately there is also a three letter code for amino acids which is often used (just to make things more confusing). So for example glutamic acid, or E, is also written as Glu, and lysine, or K, can also be written as Lys. In this case E124K would be described as Glu124Lys.
In the lab we tend to use the shortened form of protein variants (G70S, E122K, E124K for example) as they are the most meaningful for our work.
Thanks to Invitae we have been able to set up a patient registry for EEF1A2. You can find the registry here at Invitae. Registries are so important for research, so that we can begin to look at the different mutations and collect information on their effects. In this way we will be better able to predict which mutations are likely to be milder and which more severe. With your help, we will be able to track outcomes, pull together information about which drugs help and which don’t, and ultimately design better therapeutic strategies and develop new drugs. Registries are also used as a way of recruiting patients for clinical trials.
Please register and contribute to this effort. Your help is vital- thank you!