Interestingly, a duplication at the same site where we find a G allele insertion (Chr21: 47860904) in the PCNT gene (implicated in Microcephalic osteodysplastic primordial dwarfism type II), has been identified as a pathogenic variant in ClinVar, suggesting the significance of this site in protein function. This evidence concerns the gene PCNT and microcephalic osteodysplastic primordial dwarfism type II.