The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
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Date
Authors
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
Journal Title
Journal ISSN
Volume Title
Publisher
BioMed Central
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.
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Keywords
SRCAP, Phenotype, Short stature, Floating-Harbor syndrome (FHS)
Sustainable Development Goals
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.