Ontology type: schema:ScholarlyArticle Open Access: True
2004-11
AUTHORSJan Hellemans, Olena Preobrazhenska, Andy Willaert, Philippe Debeer, Peter C M Verdonk, Teresa Costa, Katrien Janssens, Bjorn Menten, Nadine Van Roy, Stefan J T Vermeulen, Ravi Savarirayan, Wim Van Hul, Filip Vanhoenacker, Danny Huylebroeck, Anne De Paepe, Jean-Marie Naeyaert, Jo Vandesompele, Frank Speleman, Kristin Verschueren, Paul J Coucke, Geert R Mortier
ABSTRACTOsteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density. The occurrence of one or more of these phenotypes in the same individual or family suggests that these entities might be allelic. We collected data from three families in which affected individuals had osteopoikilosis with or without manifestations of BOS or melorheostosis. A genome-wide linkage analysis in these families, followed by the identification of a microdeletion in an unrelated individual with these diseases, allowed us to map the gene that is mutated in osteopoikilosis. All the affected individuals that we investigated were heterozygous with respect to a loss-of-function mutation in LEMD3 (also called MAN1), which encodes an inner nuclear membrane protein. A somatic mutation in the second allele of LEMD3 could not be identified in fibroblasts from affected skin of an individual with BOS and an individual with melorheostosis. XMAN1, the Xenopus laevis ortholog, antagonizes BMP signaling during embryogenesis. In this study, LEMD3 interacted with BMP and activin-TGFbeta receptor-activated Smads and antagonized both signaling pathways in human cells. More... »
PAGES1213-1218
http://scigraph.springernature.com/pub.10.1038/ng1453
DOIhttp://dx.doi.org/10.1038/ng1453
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