title: A microduplication of CBP in a patient with mental retardation and a congenital heart defect.
abstract: Rubinstein-Taybi syndrome is a well-characterized genetic syndrome caused by haploinsufficiency of CBP in a majority of individuals. In 10% of cases a microdeletion in 16p13.3 affecting CBP is detected. We report on a patient with a de novo 345-480 kb micro-duplication the region, encompassing only CBP and TRAP1. This boy presented with various minor physical anomalies, moderate mental retardation, and an atrial septal defect, but none of the other typical characteristics of the Rubinstein-Taybi syndrome, such as the broad thumbs and first toes or facial characteristics. This finding implicates CBP as one of the causative genes for the trisomy 16p13 syndrome, and indicates this is a contiguous gene syndrome.
authors: Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.
authors: Bernard
authors: B
authors: Thienpont
authors: Jeroen
authors: J
authors: Breckpot
authors: Maureen
authors: M
authors: Holvoet
authors: Joris R
authors: JR
authors: Vermeesch
authors: Koen
authors: K
authors: Devriendt
mesh_terms: D001483:Base Sequence; D050882:CREB-Binding Protein / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16; D017931:DNA Primers; D020440:Gene Duplication; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D013577:Syndrome; D014314:Trisomy
chemical_list: D017931:DNA Primers; D050882:CREB-Binding Protein