The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Show simple item record Nikkel, Sarah M. Dauber, Andrew De Munnik, Sonja Connolly, Meghan Hood, Rebecca L Caluseriu, Oana Hurst, Jane Kini, Usha Nowaczyk, Malgorzata J.M. Afenjar, Alexandra Albrecht, Beate Allanson, Judith E. Balestri, Paolo Ben-Omran, Tawfeg Brancati, Francesco Cordeiro, Isabel Da Cunha, Bruna Santos Delaney, Louisa A. Destree, Anne Fitzpatrick, David Forzano, Francesca Ghali, Neeti Gillies, Greta Harwood, Katerina Hendriks, Yvonne M.C. Heron, Delphine Hoischen, Alexander Honey, Engela M. Hoefsloot, Lies H. Ibrahim, Jennifer Jacob, Claire M. Kant, Sarina G. Kim, Chong Ae Kirk, Edwin P. Knoers, Nine V.A.M. Lacombe, Didier Lee, Chung Lo, Ivan F.M. Lucas, Luiza S. Mari, Francesca Mericq, Veronica Moilanen, Jukka S. Møller, Sanne Traasdahl Moortgat, Stephanie Pilz, Daniela T. Pope, Kate Price, Susan Renieri, Alessandra Sa, Joaquim Schoots, Jeroen Silveira, Elizabeth L. Simon, Marleen E.H. Slavotinek, Anne Temple, I. Karen Van der Burgt, Ineke De Vries, Bert B.A. Weisfeld-Adams, James D. Whiteford, Margo L. Wit, Jan M. Yee, Connie Fung On Beaulieu, Chandree L. FORGE Canada Consortium White, Sue M. Bulman, Dennis E. Bongers, Ernie Brunner, Han Feingold, Murray Boycott, Kym M. 2014-06-19T12:33:17Z 2014-06-19T12:33:17Z 2013-04-27
dc.description.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 group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations. CONCLUSIONS: This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols. en_US
dc.description.librarian am2014 en_US
dc.description.sponsorship The Government of Canada through Genome Canada, the Canadian Institutes of Health Research (CIHR) and the Ontario Genomics Institute (OGI-049), by Genome Québec 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). 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 (Université de Montréal), 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. en_US
dc.description.uri en_US
dc.identifier.citation Nikkel et al.: The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases 2013 8:63. en_US
dc.identifier.issn 1750-1172
dc.identifier.other 10.1186/1750-1172-8-63
dc.language.iso en en_US
dc.publisher BioMed Central en_US
dc.rights © 2013 Nikkel et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License en_US
dc.subject SRCAP en_US
dc.subject Phenotype en_US
dc.subject Short stature en_US
dc.subject Floating-Harbor syndrome (FHS) en_US
dc.title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP en_US
dc.type Article en_US

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