Journal article
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
RL Hood, MA Lines, SM Nikkel, J Schwartzentruber, C Beaulieu, MJM Nowaczyk, J Allanson, CA Kim, D Wieczorek, JS Moilanen, D Lacombe, G Gillessen-Kaesbach, ML Whiteford, CRDC Quaio, I Gomy, DR Bertola, B Albrecht, K Platzer, G McGillivray, R Zou Show all
American Journal of Human Genetics | CELL PRESS | Published : 2012
Abstract
Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission has been reported on occasion. Employing whole-exome sequencing, we identified heterozygous truncating mutations in SRCAP in five unrelated individuals with sporadic FHS. Sanger sequencing identified mutations in SRCAP in eight more affected persons. Mutations were de novo in all six instances in which parental DNA was available. SRCAP is an SNF2-related chromatin-remodeling factor that serves as a coactivator for CREB-binding protein (CREBBP, be..
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Awarded by Government of Canada
Funding Acknowledgements
The authors would first like to thank the study participants and their families, without whose participation and cooperation this work would not have been possible. This work was funded by the government of Canada through Genome Canada, the Canadian Institutes of Health Research (CIHR), and the Ontario Genomics Institute (OGI-049). Additional funding was provided by Genome Quebec and Genome British Columbia. K.M.B. is supported by a Clinical Investigatorship Award from the CIHR Institute of Genetics. This work was selected for study by the FORGE Canada Steering Committee, consisting of K. Boycott (University of Ottawa), J. Friedman (University of British Columbia), J. Michaud (University of Montreal), E Bernier (University of Calgary), M. Brudno (University of Toronto), B. Fernandez (Memorial University), B. Knoppers (McGill University), M. Samuels (Universite de Montreal), and S. Scherer (University of Toronto).