Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report

The observed case may indicate greater genetic heterogeneity of Hackman-Di Donato syndrome, linking it to mutations not only in exons 8 and 9 but also in other exons of NKAP, though more data on the variant effect, as well as the significance of exon 4 of NKAP functioning is needed. Additionally, the case illustrates the need to test male patients with a Marfanoid phenotype and intellectual disability for mutations in NKAP.