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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
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 confirma...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659005/ https://www.ncbi.nlm.nih.gov/pubmed/23621943 http://dx.doi.org/10.1186/1750-1172-8-63 |
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author | 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 Albrecht, Beate Allanson, Judith E Balestri, Paolo Ben-Omran, Tawfeg Brancati, Francesco Cordeiro, Isabel da Cunha, Bruna Santos Delaney, Louisa A Destrée, Anne Fitzpatrick, David Forzano, Francesca Ghali, Neeti Gillies, Greta Harwood, Katerina Hendriks, Yvonne M C Héron, Delphine Hoischen, Alexander Honey, Engela Magdalena Hoefsloot, Lies H Ibrahim, Jennifer Jacob, Claire M Kant, Sarina G Kim, Chong Ae Kirk, Edwin P Knoers, Nine V A M Lacombe, Didier Lee, Chung Lo, Ivan F M Lucas, Luiza S Mari, Francesca Mericq, Veronica Moilanen, Jukka S Møller, Sanne Traasdahl Moortgat, Stephanie Pilz, Daniela T Pope, Kate Price, Susan Renieri, Alessandra Sá, Joaquim Schoots, Jeroen Silveira, Elizabeth L Simon, Marleen E H Slavotinek, Anne Temple, I Karen van der Burgt, Ineke de Vries, Bert B A Weisfeld-Adams, James D Whiteford, Margo L Wierczorek, Dagmar Wit, Jan M Yee, Connie Fung On Beaulieu, Chandree L White, Sue M Bulman, Dennis E Bongers, Ernie Brunner, Han Feingold, Murray Boycott, Kym M |
author_facet | 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 Albrecht, Beate Allanson, Judith E Balestri, Paolo Ben-Omran, Tawfeg Brancati, Francesco Cordeiro, Isabel da Cunha, Bruna Santos Delaney, Louisa A Destrée, Anne Fitzpatrick, David Forzano, Francesca Ghali, Neeti Gillies, Greta Harwood, Katerina Hendriks, Yvonne M C Héron, Delphine Hoischen, Alexander Honey, Engela Magdalena Hoefsloot, Lies H Ibrahim, Jennifer Jacob, Claire M Kant, Sarina G Kim, Chong Ae Kirk, Edwin P Knoers, Nine V A M Lacombe, Didier Lee, Chung Lo, Ivan F M Lucas, Luiza S Mari, Francesca Mericq, Veronica Moilanen, Jukka S Møller, Sanne Traasdahl Moortgat, Stephanie Pilz, Daniela T Pope, Kate Price, Susan Renieri, Alessandra Sá, Joaquim Schoots, Jeroen Silveira, Elizabeth L Simon, Marleen E H Slavotinek, Anne Temple, I Karen van der Burgt, Ineke de Vries, Bert B A Weisfeld-Adams, James D Whiteford, Margo L Wierczorek, Dagmar Wit, Jan M Yee, Connie Fung On Beaulieu, Chandree L White, Sue M Bulman, Dennis E Bongers, Ernie Brunner, Han Feingold, Murray Boycott, Kym M |
author_sort | Nikkel, Sarah M |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3659005 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-36590052013-05-21 The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP 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 Albrecht, Beate Allanson, Judith E Balestri, Paolo Ben-Omran, Tawfeg Brancati, Francesco Cordeiro, Isabel da Cunha, Bruna Santos Delaney, Louisa A Destrée, Anne Fitzpatrick, David Forzano, Francesca Ghali, Neeti Gillies, Greta Harwood, Katerina Hendriks, Yvonne M C Héron, Delphine Hoischen, Alexander Honey, Engela Magdalena Hoefsloot, Lies H Ibrahim, Jennifer Jacob, Claire M Kant, Sarina G Kim, Chong Ae Kirk, Edwin P Knoers, Nine V A M Lacombe, Didier Lee, Chung Lo, Ivan F M Lucas, Luiza S Mari, Francesca Mericq, Veronica Moilanen, Jukka S Møller, Sanne Traasdahl Moortgat, Stephanie Pilz, Daniela T Pope, Kate Price, Susan Renieri, Alessandra Sá, Joaquim Schoots, Jeroen Silveira, Elizabeth L Simon, Marleen E H Slavotinek, Anne Temple, I Karen van der Burgt, Ineke de Vries, Bert B A Weisfeld-Adams, James D Whiteford, Margo L Wierczorek, Dagmar Wit, Jan M Yee, Connie Fung On Beaulieu, Chandree L White, Sue M Bulman, Dennis E Bongers, Ernie Brunner, Han Feingold, Murray Boycott, Kym M Orphanet J Rare Dis Research 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. BioMed Central 2013-04-27 /pmc/articles/PMC3659005/ /pubmed/23621943 http://dx.doi.org/10.1186/1750-1172-8-63 Text en Copyright © 2013 Nikkel et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research 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 Albrecht, Beate Allanson, Judith E Balestri, Paolo Ben-Omran, Tawfeg Brancati, Francesco Cordeiro, Isabel da Cunha, Bruna Santos Delaney, Louisa A Destrée, Anne Fitzpatrick, David Forzano, Francesca Ghali, Neeti Gillies, Greta Harwood, Katerina Hendriks, Yvonne M C Héron, Delphine Hoischen, Alexander Honey, Engela Magdalena Hoefsloot, Lies H Ibrahim, Jennifer Jacob, Claire M Kant, Sarina G Kim, Chong Ae Kirk, Edwin P Knoers, Nine V A M Lacombe, Didier Lee, Chung Lo, Ivan F M Lucas, Luiza S Mari, Francesca Mericq, Veronica Moilanen, Jukka S Møller, Sanne Traasdahl Moortgat, Stephanie Pilz, Daniela T Pope, Kate Price, Susan Renieri, Alessandra Sá, Joaquim Schoots, Jeroen Silveira, Elizabeth L Simon, Marleen E H Slavotinek, Anne Temple, I Karen van der Burgt, Ineke de Vries, Bert B A Weisfeld-Adams, James D Whiteford, Margo L Wierczorek, Dagmar Wit, Jan M Yee, Connie Fung On Beaulieu, Chandree L White, Sue M Bulman, Dennis E Bongers, Ernie Brunner, Han Feingold, Murray Boycott, Kym M The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP |
title | The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP |
title_full | The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP |
title_fullStr | The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP |
title_full_unstemmed | The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP |
title_short | The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP |
title_sort | phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of srcap |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659005/ https://www.ncbi.nlm.nih.gov/pubmed/23621943 http://dx.doi.org/10.1186/1750-1172-8-63 |
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