The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Description
| Title: | The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP |
| Authors: | Nikkel, Sarah M Dauber, Andrew de Munnik, Sonja Connolly, Meghan Hood, Rebecca L Caluseriu, Oana Hurst, Jane Kini, Usha Nowaczyk, Malgorzata J Afenjar, Alexandra Albrecht, Beate Allanson, Judith E Balestri, Paolo Ben-Omran, Tawfeg Brancati, Francesco Cordeiro, Isabel da Cunha, Bruna S Delaney, Louisa A Destrée, Anne Fitzpatrick, David Forzano, Francesca Ghali, Neeti Gillies, Greta Harwood, Katerina Hendriks, Yvonne M Héron, Delphine Hoischen, Alexander Honey, Engela M Hoefsloot, Lies H Ibrahim, Jennifer Jacob, Claire M Kant, Sarina G Kim, Chong A Kirk, Edwin P Knoers, Nine V Lacombe, Didier Lee, Chung Lo, Ivan F Lucas, Luiza S Mari, Francesca Mericq, Veronica Moilanen, Jukka S Møller, Sanne T Moortgat, Stephanie Pilz, Daniela T Pope, Kate Price, Susan Renieri, Alessandra Sá, Joaquim Schoots, Jeroen Silveira, Elizabeth L Simon, Marleen E Slavotinek, Anne Temple, I K van der Burgt, Ineke de Vries, Bert B Weisfeld-Adams, James D Whiteford, Margo L Wierczorek, Dagmar Wit, Jan M Yee, Connie F O Beaulieu, Chandree L White, Sue M Bulman, Dennis E Bongers, Ernie Brunner, Han Feingold, Murray Boycott, Kym M |
| Date: | 2013-04-27 |
| Abstract: | 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. |
| URL: | http://dx.doi.org/10.1186/1750-1172-8-63 http://hdl.handle.net/10393/33793 |
| Collection | Libre accès - Publications // Open Access - Publications |
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| 13023_2013_Article_570.pdf | 1.06 MB | Adobe PDF | Open |