All children to date diagnosed with NEDAMSS have been found to have a change in the IRF2BPL gene. A gene (i.e. a small piece of our genetic code or DNA) is an instruction to assemble a protein, which is essential for the formation and proper functioning of our body. In the case of the IRF2BPL gene, when a single letter is changed in the instructions which causes the resulting protein to not be formed correctly. So far, all the gene changes in individuals with NEDAMSS have been brand new in the child and not present in the parents. These are called de novo variants. In order to determine if a child has a change in the IRF2BPL gene, a genetic test will be performed. The genetic testing can be arranged by a clinical geneticist and involves the collection of a sample of blood or saliva from the affected individual (and eventually the parents).
IRF2BPL