caa a22 4500 397574193 CHVBK 20180308164850.0 cr unu---uuuuu 161202e199601 xx s 000 0 eng 10.1093/hmg/5.1.139 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.1.139 Deletions in Xq28 in Two Boys with Myotubular Myopathy and Abnormal Genital Development Define a New Contiguous Gene Syndrome in a 430 kb Region [Elektronische Daten] [Ling-Jia Hu, Jocelyn Laporte, Wolfram Kress, Petra Kioschis, Renate Siebenhaar, Annemarie Poustka, Michel Fardeau, Aida Metzenberg, Emiel A. Janssen, Nick Thomas, Jean Louis Mandel, Niklas Dahl] We have recently described a female patient with myotubular myopathy (MTM1) and an interstitial deletion at Xq28. Characterisation of the deletion allowed us to position the MTM1 gene to a 600 kb region between DXS304 and DXS497. In order to further restrict the region we screened for deletions in a set of 38 patients. We found two overlapping deletions in boys that in addition to MTM1 showed an unexpected abnormal genital development. As the latter phenotype is not found in the other non-deleted MTM1 patients, our observations are best explained by a contiguous gene syndrome. The deletions define a 430 kb region that contains the MTM1 gene and most likely a gene implicated in male sexual development. A high resolution physical map of this region is presented. © 1996 Oxford University Press Hu Ling-Jia Institut de Génetique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, 67404 Illkirch Cedex, Strasbourg, France aut Laporte Jocelyn Institut de Génetique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, 67404 Illkirch Cedex, Strasbourg, France aut Kress Wolfram Department of Human Genetics, University of Wurzburg Biocentre, 8700 Wurzburg, Germany aut Kioschis Petra Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany aut Siebenhaar Renate Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany aut Poustka Annemarie Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany aut Fardeau Michel INSERM U153, 75005 Paris, France aut Metzenberg Aida Department of Biology, California State University Northridge, Northridge, CA 91330-8303, USA aut Janssen Emiel A. Department of Neurology, Academical Medical Center, 1105 AZ Amsterdam, The Netherlands aut Thomas Nick Department of Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, UK aut Mandel Jean Louis Institut de Génetique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, 67404 Illkirch Cedex, Strasbourg, France aut Dahl Niklas Department of Clinical Genetics, University Hospital, S-751 85 Uppsala, Sweden aut Human Molecular Genetics Oxford University Press 5/1(1996-01), 139-143 0964-6906 5:1<139 1996 5 hmg https://doi.org/10.1093/hmg/5.1.139 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.1.139 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hu Ling-Jia Institut de Génetique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, 67404 Illkirch Cedex, Strasbourg, France aut NATIONALLICENCE 700 1- Laporte Jocelyn Institut de Génetique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, 67404 Illkirch Cedex, Strasbourg, France aut NATIONALLICENCE 700 1- Kress Wolfram Department of Human Genetics, University of Wurzburg Biocentre, 8700 Wurzburg, Germany aut NATIONALLICENCE 700 1- Kioschis Petra Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany aut NATIONALLICENCE 700 1- Siebenhaar Renate Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany aut NATIONALLICENCE 700 1- Poustka Annemarie Deutsches Krebsforschungszentrum, Im Neuenheimer Feld 280, 69120 Heidelberg, Germany aut NATIONALLICENCE 700 1- Fardeau Michel INSERM U153, 75005 Paris, France aut NATIONALLICENCE 700 1- Metzenberg Aida Department of Biology, California State University Northridge, Northridge, CA 91330-8303, USA aut NATIONALLICENCE 700 1- Janssen Emiel A. Department of Neurology, Academical Medical Center, 1105 AZ Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Thomas Nick Department of Genetics, University of Wales College of Medicine, Cardiff CF4 4XN, UK aut NATIONALLICENCE 700 1- Mandel Jean Louis Institut de Génetique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, 67404 Illkirch Cedex, Strasbourg, France aut NATIONALLICENCE 700 1- Dahl Niklas Department of Clinical Genetics, University Hospital, S-751 85 Uppsala, Sweden aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/1(1996-01), 139-143 0964-6906 5:1<139 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford