Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

In contrast to complementation with wild-type NSD2 and gain-of function NSD2 -Glu1099Lys, cells complemented with the DD-associated NSD2 variants were partially to largely compromised in their ability to rescue physiologic H3K36me2 levels, with Glu1091Lys (patient 5-I) being the only variant which did not reach statistical significance ( Figures 2S and 2T ).

also in 111,027 other papers