dc.contributor.author |
Nikkel, Sarah M.
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dc.contributor.author |
Dauber, Andrew
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dc.contributor.author |
De Munnik, Sonja
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dc.contributor.author |
Connolly, Meghan
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dc.contributor.author |
Hood, Rebecca L
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dc.contributor.author |
Caluseriu, Oana
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dc.contributor.author |
Hurst, Jane
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dc.contributor.author |
Kini, Usha
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dc.contributor.author |
Nowaczyk, Malgorzata J.M.
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dc.contributor.author |
Afenjar, Alexandra
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dc.contributor.author |
Albrecht, Beate
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dc.contributor.author |
Allanson, Judith E.
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dc.contributor.author |
Balestri, Paolo
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dc.contributor.author |
Ben-Omran, Tawfeg
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dc.contributor.author |
Brancati, Francesco
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dc.contributor.author |
Cordeiro, Isabel
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dc.contributor.author |
Da Cunha, Bruna Santos
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dc.contributor.author |
Delaney, Louisa A.
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dc.contributor.author |
Destree, Anne
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dc.contributor.author |
Fitzpatrick, David
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dc.contributor.author |
Forzano, Francesca
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dc.contributor.author |
Ghali, Neeti
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dc.contributor.author |
Gillies, Greta
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dc.contributor.author |
Harwood, Katerina
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dc.contributor.author |
Hendriks, Yvonne M.C.
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dc.contributor.author |
Heron, Delphine
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dc.contributor.author |
Hoischen, Alexander
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dc.contributor.author |
Honey, Engela M.
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dc.contributor.author |
Hoefsloot, Lies H.
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dc.contributor.author |
Ibrahim, Jennifer
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dc.contributor.author |
Jacob, Claire M.
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dc.contributor.author |
Kant, Sarina G.
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dc.contributor.author |
Kim, Chong Ae
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dc.contributor.author |
Kirk, Edwin P.
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dc.contributor.author |
Knoers, Nine V.A.M.
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dc.contributor.author |
Lacombe, Didier
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dc.contributor.author |
Lee, Chung
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dc.contributor.author |
Lo, Ivan F.M.
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dc.contributor.author |
Lucas, Luiza S.
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dc.contributor.author |
Mari, Francesca
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dc.contributor.author |
Mericq, Veronica
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dc.contributor.author |
Moilanen, Jukka S.
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dc.contributor.author |
Møller, Sanne Traasdahl
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dc.contributor.author |
Moortgat, Stephanie
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dc.contributor.author |
Pilz, Daniela T.
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dc.contributor.author |
Pope, Kate
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dc.contributor.author |
Price, Susan
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dc.contributor.author |
Renieri, Alessandra
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dc.contributor.author |
Sa, Joaquim
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dc.contributor.author |
Schoots, Jeroen
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dc.contributor.author |
Silveira, Elizabeth L.
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dc.contributor.author |
Simon, Marleen E.H.
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dc.contributor.author |
Slavotinek, Anne
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dc.contributor.author |
Temple, I. Karen
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dc.contributor.author |
Van der Burgt, Ineke
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dc.contributor.author |
De Vries, Bert B.A.
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dc.contributor.author |
Weisfeld-Adams, James D.
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dc.contributor.author |
Whiteford, Margo L.
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dc.contributor.author |
Wit, Jan M.
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dc.contributor.author |
Yee, Connie Fung On
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dc.contributor.author |
Beaulieu, Chandree L.
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dc.contributor.author |
FORGE Canada Consortium
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dc.contributor.author |
White, Sue M.
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dc.contributor.author |
Bulman, Dennis E.
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dc.contributor.author |
Bongers, Ernie
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dc.contributor.author |
Brunner, Han
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dc.contributor.author |
Feingold, Murray
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dc.contributor.author |
Boycott, Kym M.
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dc.date.accessioned |
2014-06-19T12:33:17Z |
|
dc.date.available |
2014-06-19T12:33:17Z |
|
dc.date.issued |
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 |
http://www.ojrd.com |
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.identifier.uri |
http://hdl.handle.net/2263/40307 |
|
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 |