Journal article
The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
SM Nikkel, A Dauber, S De Munnik, M Connolly, RL Hood, O Caluseriu, J Hurst, U Kini, MJM Nowaczyk, A Afenjar, B Albrecht, JE Allanson, P Balestri, T Ben-Omran, F Brancati, I Cordeiro, BS Da Cunha, LA Delaney, A Destrée, D Fitzpatrick Show all
Orphanet Journal of Rare Diseases | BMC | Published : 2013
Open access
Abstract
Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results. Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the grou..
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Awarded by Government of Canada
Funding Acknowledgements
The authors would like to thank the families for their cooperation and permission to publish these findings. SdM would like to thank Barto Otten. Funding was provided by the Government of Canada through Genome Canada, the Canadian Institutes of Health Research (CIHR) and the Ontario Genomics Institute (OGI-049), by Genome Quebec and Genome British Columbia, and the Manton Center for Orphan Disease Research at Children's Hospital Boston. KMB is supported by a Clinical Investigatorship Award from the CIHR Institute of Genetics. AD is supported by NIH grant K23HD073351. BBAdV and HGB were financially supported by the AnEUploidy project (LSHG-CT-2006-37627). This work was selected for study by the FORGE Canada Steering Committee, which consists of K. Boycott (University of Ottawa), J. Friedman (University of British Columbia), J. Michaud (University of Montreal), F. 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). We thank the Galliera Genetic Bank - "Telethon Genetic Biobank Network" supported by Italian Telethon grants (project no. GTB07001) for providing us with specimens.