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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Calì, F. Failla, P. Schinocca, P. Romano, C. Chiavetta, V. Ruggeri, G. Romano, V. Schepis, C. Ragalmuto, A. |
| Description | Country affiliation: Italy Author Affiliation: Calì F ( Laboratory of Molecular Genetics, IRCCS Associazione Oasi Maria SS, Troina, Italy.) |
| 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. |
| e-ISSN | 16765680 |
| Journal | Genetics and Molecular Research |
| Issue Number | 3 |
| Volume Number | 12 |
| Language | English |
| Publisher | Fundação de Pesquisas Científicas de Ribeirão Preto |
| Publisher Date | 2013-01-07 |
| Publisher Place | Brazil |
| Access Restriction | Open |
| Subject Keyword | Creb-binding Protein Genetics Gene Deletion Rubinstein-taybi Syndrome Child, Preschool Genetic Testing Heterozygote Multiplex Polymerase Chain Reaction Diagnosis Research Support, Non-u.s. Gov't Discipline Genetics Discipline Molecular Biology Discipline Bioinformatics |
| Content Type | Text |
| Resource Type | Article Case study |
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