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. 2007 Aug;15(8):843-7.
doi: 10.1038/sj.ejhg.5201847. Epub 2007 May 2.

Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients

Marianne Stef  1 , Delphine Simon, Béatrice Mardirossian, Marie-Ange Delrue, Ingrid Burgelin, Christophe Hubert, Michèle Marche, Françoise Bonnet, Philippe Gorry, Michel Longy, Didier Lacombe, Isabelle Coupry, Benoît Arveiler
Affiliations

Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients

Marianne Stef et al. Eur J Hum Genet. 2007 Aug.

Abstract

The Rubinstein-Taybi syndrome (RTS) is a rare autosomal-dominant disease associated with 10-15% of cases with 16p13.3 microdeletions involving the CREB-binding protein gene (CREBBP). We used array-comparative genomic hybridization and Quantitative multiplex fluorescent-PCR (QMF-PCR) to search for dosage anomalies in the 16p13.3 region and the CREBBP gene. We first constructed a microarray covering 2 Mb that carries seven BAC and 34 cosmid clones, as well as 26 low-molecular-weight probes (1000-1500 bp) that are spread along the CREBBP gene. To increase further the resolution inside the CREBBP gene, we used QMF-PCR assays providing a 7 kb resolution. The deletions characterized in this work extended between as little as 3.3 kb and 6.5 Mb. Some deletions were restricted to just a few exons of CREBBP, some deleted either the 5' or the 3' end of the gene plus adjacent genomic segments, others deleted the whole gene away. We also identified a duplication of exon 16. We showed that CREBBP dosage anomalies constitute a common cause of RTS. CREBBP high-resolution gene dosage search is therefore highly recommended for RTS diagnosis. No correlation was found between the type of deletion and the patients' phenotype. All patients had typical RTS, and there was no particular severity associated with certain alterations.

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