Clinically, Weaver syndrome is closely related to Sotos syndrome, which is 
frequently caused by mutations in NSD1. This gene also encodes a histone 
methyltransferase, in this case with activity against histone H3 lysine 36. NSD1 
is mutated in carcinoma of the upper aerodigestive tract 
(www.sanger.ac.uk/genetics/CGP/cosmic/) and also fuses to NUP98 in acute myeloid 
leukemia. Looking more widely, whole exome screens in lymphoma, multiple 
myeloma, renal carcinoma and other malignancies have identified genes encoding 
diverse histone modifiers as targets of somatic mutation. Strikingly, several of 
these (e.g. MLL2, EP300, CREBBP, ASXL1) are also mutated in human developmental 
disorders thus pointing towards a remarkable and unexpected convergence between 
somatic and germline genetics.