Evaluation of NSD2 and NSD3 in overgrowth syndromes

摘要: Sotos syndrome is an overgrowth condition predominantly caused by truncating mutations, missense mutations restricted to functional domains, or deletions of NSD1. NSD1 a member protein family that includes NSD2 and NSD3, both which show 70–75% sequence identity with This strong similarity suggests abrogation NSD3 function may cause non-NSD1 cases other phenotypes. To evaluate this hypothesis, we mutationally screened in 78 had been excluded. Additionally, used microsatellite markers within the vicinity genes look for whole gene deletions. No were identified either gene. We two conservative alterations non-Sotos but neither was domain. three synonymous intronic variants base substitutions NSD3. Our results suggest despite between NSD1, latter are unlikely be making substantial contribution phenotypes thus operate distinct pathways from