No focal deletions involving DNASE1 have been described and thus 'haploinsufficiency status' is unknown. The authors characterize several patients with Rubinstein-Taybi syndrome (RSTS) who had a chromosomal microdeletion including the CREBBP gene. The patients with severe RSTS all had deletions comprising telomeric neighbor genes of CREBBP, including DNASE1, a dominant gene encoding a nuclease that has been associated with systemic lupus erythematodes (PMID:19360410)
No Literature Identified.