Each gene is made by a sequence of nucleotides known as G, C, T, and A. The alternating pattern of these sequences makes each gene different from the other and translated to various proteins that our body needs for ultimate functions at the cellular level.
If there is a change in the normal sequence of these nucleotides for a gene such as SLC45A1, it’s called variant or mutation.
This change will be pathogenic (causing disease) if linked to specific clinical features and other criteria.
For SLC45A1-related syndrome, to cause a disease, patient must have two copies each from a parent with a mutation or pathogenic variant. So, it is inherited in an autosomal recessive pattern. The risk of having another affected child is 25%.