Patients with Rubinstein-Taybi syndrome (RSTS) [OMIM #180849] have characteristic facial features, short stature, broad (often angulated) thumbs and great toes, and moderate to severe mental retardation. Facial features include arched eyebrows, down-slanting palpebral fissures, a beaked nose with long columella, high arched palate, and grimacing smile. Mutations of the EP300 (E1A binding protein, 300-KD) [OMIM #602700] gene have been identified in approximately 3% of patients with RSTS. Only nonsense mutations, frameshift and interstitial deletions have been identified in the EP300 gene to date.
Specimen Types Accepted