Journal article

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

Danielle C Lynch, Timothee Revil, Jeremy Schwartzentruber, Elizabeth J Bhoj, A Micheil Innes, Ryan E Lamont, Edmond G Lemire, Bernard N Chodirker, Juliet P Taylor, Elaine H Zackai, D Ross McLeod, Edwin P Kirk, Julie Hoover-Fong, Leah Fleming, Ravi Savarirayan, Jacek Majewski, Loydie A Jerome-Majewska, Jillian S Parboosingh, Francois P Bernier

Nature Communications | NATURE PUBLISHING GROUP | Published : 2014


Awarded by Alberta Innovates

Funding Acknowledgements

Supporting information can be found in the online Supplementary Material. We thank the patients and their families who participated in this study. Cell culture for the qRT-PCR experiments was performed by Nadine Gamache. The miniSmB construct was a gift from Dr Benjamin Blencowe. Drs Roy Gravel, Kym Boycott and Benedikt Hallgrimsson provided critical review of the manuscript. This work was performed under the Care4Rare Canada Consortium funded by Genome Canada, the Canadian Institutes of Health Research, the Ontario Genomics Institute, Ontario Research Fund, Genome Quebec and Children's Hospital of Eastern Ontario Research Foundation. We acknowledge the contribution of the high-throughput sequencing platform of the McGill University and Genome Quebec Innovation Centre, Montreal, Canada. We would like to thank Taila Hartley (Clinical Coordinator) and Chandree Beaulieu (Project Manager) at the Children's Hospital of Eastern Ontario Research Institute for their contribution to the infrastructure of Care4Rare. D.C.L. is supported by a graduate studentship from Alberta Innovates-Health Solutions. T.R. is supported in part by a fellowship from the RI MUHC-Foundation of Stars at the Montreal Children's Hospital. L.A.J.-M. is a member of the Research Institute of the McGill University Health Centre, which is supported in part by the Fonds de recherche du Quebec-Sante.