All individuals had de novo heterozygous variants in the PHF5A gene. A gene is a piece of DNA that codes for a protein that has a function in the cell. We already know that the PHF5A is part of a protein complex that regulates the processing of primary transcripts (pre-mRNAs) and thereby the production of many proteins. The variants in the PHF5A gene are loss-of-function, missense, splice, and start-loss variants. All the variants have occurred ‘de novo', meaning that both parents of the patients do not carry the variant.
PHF5A