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. Characteristic facial features include arched eyebrows, down-slanting palpebral fissures, a beaked nose with long columella, high arched palate, and grimacing smile. Mutations of the CREBBP (CREB binding protein) [OMIM #600140] gene have been identified in patients with RSTS. Approximately 10% of patients with RSTS have 16p13.3 microdeletions involving the CREBBP gene, 30-50% of patients with RSTS have mutations in the CREBBP gene, and approximately 10-20% of patients with RSTS have intragenic deletions or duplications involving one or more exons of CREBBP.
Test Methods
Sequencing
Specimen Types Accepted
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Documents
Disorders
Genes