PhenomeGene — Human Disease Gene Website SeriesEIF4A3

Molecular characteristics

Richieri-Costa-Pereira syndrome (RCPS) happens because of a change in a gene called EIF4A3. Most of the changes among RCPS patients occurs in a part of the gene that does not code for protein (called the 5´UTR), where a small DNA sequence is repeated many times. In most children with RCPS, the repeated DNA sequence is longer than normal. In milder cases of RCPS, it is possible that other type of small genetic changes has occurred.