Peter Najm & KAT6A disorder; living with a little known genetic mutation

Abstract

Peter Najm is one out of only 311 people around the globe who were born with the rare genetic mutation more commonly referred to as KAT6A disorder. While he may appear to be a 12 year old, nonverbal boy on the outside, there is simply so much more to Peter. What is KAT6A? It is a gene mutation of the KAT6A protein in chromosome 8, which is a major protein involved in the packaging of DNA molecules. So how does it work? The KAT6A gene makes the KAT6A protein, which is involved in controlling the production of proteins from other genes. Therefore, when there is a change on the KAT6A gene, problems can occur in various parts of the body. Currently, scientists do not know all of the functions of the KAT6A gene, so our knowledge will increase as research advances (KAT6A Foundation, 2021). However, what we do know is that when a person has a mutated KAT6A protein, all of the cells in their body will be affected. Interestingly enough, most of the time that a child is born with this mutation, their parents did not have or carry the gene, labelling it a ‘de novo’ gene mutation, as opposed to a typical genetic disorder or something that is hereditary and has been passed down. However, if a person does have the KAT6A mutation, there is a 50% chance that they will then pass this gene along to their children, as it is autosomal dominant.