Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome
| Autor: | Valeria Chiavetta, Alda Ragalmuto, Carmelo Schepis, Corrado Romano, Francesco Cali, Cataldo Scavuzzo, Giuseppa Ruggeri, Pietro Schinocca, Pinella Failla, Valentino Romano |
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| Přispěvatelé: | Calì,F, Failla,P, Chiavetta,V, Ragalmuto,A, Ruggeri,G, Schinocca,P, Schepis,C, Romano,V, Romano,C |
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Heterozygote
CREB Exon Settore BIO/13 - Biologia Applicata Genetics medicine Humans Multiplex Multiplex ligation-dependent probe amplification Genetic Testing CREB-binding protein Molecular Biology Gene Rubinstein-Taybi Syndrome Rubinstein–Taybi syndrome biology Multiplex ligation-dependent probe amplification Comparative multiplex dosage analysis CREB-binding protein Rubinstein-Taybi syndrome Heterozygote advantage General Medicine medicine.disease Molecular biology CREB-Binding Protein Child Preschool biology.protein Female Multiplex Polymerase Chain Reaction Gene Deletion |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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