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

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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
CollectionLibre accès - Publications // Open Access - Publications
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