For instance, Autosomal Dominant Polycystic Kidney Disease (ADPKD) is primarily attributed to pathogenic variants in the PKD1 and PKD2 genes [8], while Marfan syndrome [9] and Neurofibromatosis type 1 (NF1) [10] are mainly associated with the FBN1 and NF1 genes, respectively. The gene discussed is NF1; the disease is Marfan syndrome.