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| ID:
411209.1,
MPI für molekulare Genetik / Department of Human Molecular Genetics |
| Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1 |
| Authors: | Seifert, Wenke; Holder-Espinasse, Muriel; Kühnisch, Jirko; Kahrizi, Kimia; Tzschach, Andreas; Garshasbi, Masoud; Najmabadi, Hossein; Kuss, Andreas Walter; Kress, Wolfram; Laureys, Geneviève; Loeys, Bart; Brilstra, Eva; Mancini, Grazia M.S.; Dollfus, Hélène; Dahan, Karin; Apse, Kira; Hennies, Hans Christian; Horn, Denise | | Language: | English | | Research Context: | Deutsche Forschungsgemeinschaft; Grant Number: HE3119/7-2, HO2523/1-2 | | Date of Publication (YYYY-MM-DD): | 2008-11-12 | | Title of Journal: | Human Mutation | | Journal Abbrev.: | Hum Mut | | Volume: | 30 | | Issue / Number: | 2 | | Start Page: | E404 | | End Page: | E420 | | Copyright: | © 2008 Wiley-Liss, Inc., A Wiley Company | | Review Status: | not specified | | Audience: | Experts Only | | Abstract / Description: | Cohen syndrome is characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in COH1 (VPS13B) have been found in patients with Cohen syndrome from diverse ethnic origins. We have carried out mutation analysis in twelve novel patients with Cohen syndrome from nine families. In this series, we have identified 13 different mutations in COH1, twelve of these are novel including six frameshift mutations, four nonsense mutations, two splice site mutations, and a one-codon deletion. Since different transcripts of COH1 have been reported previously, we have analysed the expression patterns of COH1 splice variants. The transcript variant NM_152564 including exon 28b showed ubiquitous expression in all examined human tissues. In contrast, human brain and retina showed differential splicing of exon 28 (NM_017890). Moreover, analysis of mouse tissues revealed ubiquitous expression of Coh1 homologous to human NM_152564 in all examined tissues but no prevalent alternative splicing. | | Free Keywords: | Cohen syndrome • COH1 • VPS13B • allelic heterogeneity • differential gene expression | | Comment of the Author/Creator: | email: Hans Christian Hennies (h.hennies@uni-koeln.de)
Correspondence to Hans Christian Hennies, Cologne Center for Genomics, University of Cologne, Zülpicher Str. 47, 50674 Köln, Germany; Phone +49-221-4706911; fax +49-221-4701595 | | External Publication Status: | published | | Document Type: | Article |
| Communicated by: | Hans-Hilger Ropers | | Affiliations: | MPI für molekulare Genetik
| | External Affiliations: | 1.Cologne Center for Genomics, University of Cologne, Germany;
2.Faculty of Biology, Chemistry, and Pharmacy, Free University of Berlin, Germany;
3.Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France;
4.Institute of Medical Genetics, Charité, University Medicine of Berlin, Germany;
5.Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran;
6.Institute of Human Genetics, University of Wuerzburg, Germany;
7.Department of Pediatrics and Medical Genetics, University Hospital, Ghent, Belgium;
8.Department of Clinical Genetics, University Medical Center, Utrecht, The Netherlands;
9.Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands;
10.Service de Génétique Médicale, Hôpital de Hautepierre, Strasbourg, France;
11Centre de Génétique Humaine, Cliniques Universitaires St Luc, Brussels, Belgium;
12Beth Israel Deaconess Medical Center, Harvard Medical School, Boston MA, USA.
| | Identifiers: | URL:http://www3.interscience.wiley.com/cgi-bin/fulltex...
DOI:10.1002/humu.20886 |
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