X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

Magdalena Harakalova; Marie-Jose van den Boogaard; Richard Sinke; Stef van Lieshout; Marc C van Tuil; Karen Duran; Ivo Renkens; Paulien A Terhal; Carolien de Kovel; Ies J Nijman; Mieke van Haelst; Nine V A M Knoers; Gijs van Haaften; Wigard Kloosterman; Raoul C M Hennekam; Edwin Cuppen; Hans Kristian Ploos van Amstel

doi:10.1136/jmedgenet-2012-100921

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X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

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Magdalena Harakalova 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Marie-Jose van den Boogaard 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Richard Sinke 2Department of Genetics, University Medical Center Groningen (UMCG), University of Groningen, Groningen, The Netherlands PubMed articles Google scholar articles
Stef van Lieshout 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Marc C van Tuil 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Karen Duran 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Ivo Renkens 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Paulien A Terhal 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Carolien de Kovel 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Ies J Nijman 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Mieke van Haelst 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Nine V A M Knoers 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Gijs van Haaften 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Wigard Kloosterman 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Raoul C M Hennekam 3Department of Pediatrics, Academic Medical Center (AMC), Amsterdam, The Netherlands PubMed articles Google scholar articles
Edwin Cuppen 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands4Hubrecht Institute, KNAW and University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles
Hans Kristian Ploos van Amstel 1Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht, The Netherlands PubMed articles Google scholar articles

Correspondence to Dr Hans Kristian Ploos van Amstel, Department of Medical Genetics, University Medical Center Utrecht (UMCU), Utrecht 3584 EA, The Netherlands; j.k.ploosvanamstel{at}umcutrecht.nl

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Citation

Harakalova M, van den Boogaard M, Sinke R, et al

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face

Journal of Medical Genetics 2012;49:539-543.

Publication history

Received April 27, 2012
Revised June 15, 2012
Accepted June 24, 2012
First published August 12, 2012.

Online issue publication

April 27, 2016

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