www.impactaging.com AGING, June 2013, Vol. 5 No 6 Research Paper Progeroid laminopathy with restrictive dermopathy‐like features caused by an isodisomic LMNA mutation p.R435C Sven Starke1,2#, Peter Meinke3#, Daria Camozzi4, Elisabetta Mattioli4, Roland Pfaeffle1, Manuela Siekmeyer1, Wolfgang Hirsch5, Lars Christian Horn6, Uwe Paasch7, Diana Mitter8, Giovanna 4 3 1 Lattanzi , Manfred Wehnert , and Wieland Kiess 1 Department of Women and Child Health, Hospital for Children and Adolescents, Centre of Pediatric Research, University Hospital, University of Leipzig, Leipzig, Germany 2 Department of Pediatric Oncology, Hematology and Hemostaseology, Hospital for Children and Adolescents, University Hospital, University of Leipzig, Leipzig, Germany 3 Institute of Human Genetics Greifswald, University Medicine Greifswald and Interfaculty, Institute of Genetics and Functional Genomics, University of Greifswald, Germany 4 National Research Council of Italy, CNR, Institute of Molecular Genetics, Unit of Bologna, Italy 5 Department of Pediatric Radiology, University Hospital of Leipzig, Leipzig, Germany 6 Institute of Pathology, Division of Breast, Gynecologic and Perinatal Pathology, University of Leipzig, Leipzig, Germany 7 Department of Dermatology, Venereology, and Allergology, University Hospital of Leipzig, Leipzig, Germany 8 Institute of Human Genetics, University Hospital of Leipzig, Leipzig, Germany # These authors contributed equally to the work. Key words: Progeroid syndrome; LMNA; DNA damage; uniparental disomy; 53BP1 Received: 4/9/13; Accepted: 6/13/13; Published: 6/19/13 Correspondence to: Sven Starke, PhD; E‐mail:
[email protected] ‐leipzig.de Copyright: © Starke et al. This is an open‐access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Abstract: The clinical course of a female patient affected by a progeroid syndrome with Restrictive Dermopathy (RD)‐like features was followed up.