I’m Dr. Roser Urreizti, a member of a research team from the Genetics Department at University of Barcelona led by Prof. Grinberg and Dr. Balcells. Since 2011 we have been investigating the genetic cause of OTCS and BOS Syndromes, in collaboration with Prof. J. Opitz and Prof. G. Neri.
We have recruited a cohort of 17 patients and relatives diagnosed as BOS or OTCS. As you know, the diagnosis is often unclear. We have used Next Generation Sequencing to analyse the exome of some Opitz C patients and relatives. We have also analysed the ASXL1 gene in all our OTCS and BOS patients.
So far, we have obtained the exome sequences of 6 patients and we have been able to find the gene responsible for the disease in 3 of them.
WE ARE PLANNING TO START A NEW SEQUENCING CAMPAIGN SOON (October-November 2015).
If any family with a…
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