1. The phenotype of Floating-Harbor syndrome
- Author
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Murray Feingold, Ivan F M Lo, Francesco Brancati, Kate Pope, Beate Albrecht, Chong Ae Kim, Stephanie Moortgat, Katerina Harwood, Greta Gillies, Anne Slavotinek, Verónica Mericq, Jane A. Hurst, Didier Lacombe, Estevan Luiz da Silveira, Meghan Connolly, Judith Allanson, Ernie M.H.F. Bongers, Marleen Simon, Susan M. White, Paolo Balestri, Usha Kini, Anne Destree, Han G. Brunner, Alexandra Afenjar, James D. Weisfeld-Adams, Sarina G. Kant, Bert B.A. de Vries, Francesca Forzano, Neeti Ghali, Alessandra Renieri, Nine V A M Knoers, Claire M Jacob, Kym M. Boycott, Andrew Dauber, Joaquim Sá, Ineke van der Burgt, Jennifer Ibrahim, Dagmar Wierczorek, Chung Lee, Sanne Traasdahl Møller, Jeroen Schoots, Delphine Héron, Francesca Mari, Jukka S. Moilanen, Małgorzata J.M. Nowaczyk, Dennis E. Bulman, Oana Caluseriu, Connie Fung On Yee, Tawfeg Ben-Omran, Louisa A Delaney, Sonja A. de Munnik, Isabel Cordeiro, Margo L. Whiteford, Alexander Hoischen, Luiza Silveira Lucas, Bruna Santos da Cunha, Chandree L. Beaulieu, Rebecca L. Hood, Yvonne M C Hendriks, David R. FitzPatrick, Susan Price, Engela Honey, Edwin P. Kirk, Sarah M. Nikkel, Jan M. Wit, Daniela T. Pilz, I. Karen Temple, Lies H. Hoefsloot, Clinical Genetics, Research & Education, Human genetics, and Other Research
- Subjects
Heart Septal Defects, Ventricular ,Male ,Pediatrics ,Craniofacial abnormality ,Medizin ,medicine.disease_cause ,Ventricular/genetics ,Craniofacial Abnormalities ,Exon ,Floating Harbor syndrome ,Phenotype ,Short stature ,SRCAP ,Abnormalities, Multiple ,Adenosine Triphosphatases ,Adolescent ,Adult ,Child ,Child, Preschool ,Exons ,Female ,Growth Disorders ,Humans ,Middle Aged ,Mutation ,Young Adult ,0302 clinical medicine ,Abnormalities, Multiple/genetics ,Exons/genetics ,Medicine ,Genetics(clinical) ,Pharmacology (medical) ,Young adult ,Genetics (clinical) ,Medicine(all) ,Genetics ,0303 health sciences ,Adenosine Triphosphatases/genetics ,General Medicine ,Multiple/genetics ,medicine.symptom ,Abnormalities ,Multiple ,medicine.medical_specialty ,Craniofacial Abnormalities/genetics ,Heart Septal Defects, Ventricular/genetics ,03 medical and health sciences ,Preschool ,030304 developmental biology ,business.industry ,Research ,Heart Septal Defects ,Ventricular ,Growth Disorders/genetics ,medicine.disease ,Human genetics ,Floating–Harbor syndrome ,business ,030217 neurology & neurosurgery - 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.
- Published
- 2013
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