title: Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome.
abstract: Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis. Mutations in the gene encoding the cAMP response element-binding protein (CREB, also known as CREBBP or CBP) on chromosome 16p13.3 have been identified. In addition, some patients with low intelligence quotients and autistic features bear large deletions. Based on these observations, we used multiplex ligation-dependent probe amplification to search for large deletions affecting the CREBBP gene in a Rubinstein-Taybi syndrome patient. We identified a novel heterozygote deletion removing five exons (exons 17-21), encoding the histone acetyltransferase domain. We propose the use of multiplex ligation-dependent probe amplification as a fast, accurate and cheap test for detecting large deletions in the CREBBP gene in the sub-group of Rubinstein-Taybi syndrome patients with low intelligence quotients and autistic features.
authors: Laboratory of Molecular Genetics, IRCCS Associazione Oasi Maria SS, Troina, Italy.
authors: F
authors: F
authors: Calì
authors: P
authors: P
authors: Failla
authors: V
authors: V
authors: Chiavetta
authors: A
authors: A
authors: Ragalmuto
authors: G
authors: G
authors: Ruggeri
authors: P
authors: P
authors: Schinocca
authors: C
authors: C
authors: Schepis
authors: V
authors: V
authors: Romano
authors: C
authors: C
authors: Romano
mesh_terms: D050882:CREB-Binding Protein / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D017353:Gene Deletion; D005820:Genetic Testing / Q000379:methods; D006579:Heterozygote; D006801:Humans; D060885:Multiplex Polymerase Chain Reaction; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis / Q000235:genetics*
chemical_list: D050882:CREB-Binding Protein; C494363:CREBBP protein, human