Rubinstein-Taybi Syndrome and CREBBP Mutations in Italy
Author Information
Author(s): Bentivegna Angela, Milani Donatella, Gervasini Cristina, Castronovo Paola, Mottadelli Federica, Manzini Stefano, Colapietro Patrizia, Giordano Lucio, Atzeri Francesca, Divizia Maria T, Uzielli Maria L Giovannucci, Neri Giovanni, Bedeschi Maria F, Faravelli Francesca, Selicorni Angelo, Larizza Lidia
Primary Institution: University of Milan, Italy
Hypothesis
What is the spectrum of CREBBP mutations in Italian patients with Rubinstein-Taybi Syndrome?
Conclusion
This study confirms a high mutation detection rate of 61.3% in Italian patients with Rubinstein-Taybi Syndrome.
Supporting Evidence
- The study identified five deletions and 14 point mutations in the CREBBP gene.
- The mutation detection rate of 61.3% is one of the highest reported.
- The study highlights the importance of using multiple methods to detect mutations.
Takeaway
Doctors studied 31 kids with a rare syndrome to find out how many had changes in a specific gene. They found that a lot of them did.
Methodology
The study used mutation analysis of CREBBP through microsatellite segregation analysis, BAC FISH, and direct sequencing.
Limitations
The study could not test for silent exonic alterations affecting splicing enhancers or the CREBBP promoter due to technical issues.
Participant Demographics
The group consisted of 16 female and 15 male patients, aged 2 to 42 years.
Digital Object Identifier (DOI)
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