http://www.cnr.it/ontology/cnr/individuo/prodotto/ID300809
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C (Articolo in rivista)
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- Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C (Articolo in rivista) (literal)
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- 2013-01-01T00:00:00+01:00 (literal)
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- Starke S.; Meinke P.; Camozzi D.; Mattioli E.; Pfaeffle R.; Siekmeyer M.; Hirsch W.; Horn L.C.; Paasch U.; Mitter D.; Lattanzi G.; Wehnert M.; Kiess W. (literal)
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- Department of Women and Child Health, Hospital for Children and Adolescents, Centre of Pediatric Research, University Hospital, University of Leipzig, Leipzig, Germany; Department of Pediatric Oncology, Hematology and Hemostaseology, Hospital for Children and Adolescents, University Hospital, University of Leipzig, Leipzig, Germany; Institute of Human Genetics Greifswald, University Medicine Greifswald and Interfaculty, Institute of Genetics and Functional Genomics, University of Greifswald, Germany; National Research Council of Italy, CNR, Institute of Molecular Genetics, Unit of Bologna, Italy; Department of Pediatric Radiology, University Hospital of Leipzig, Leipzig, Germany; Institute of Pathology, Division of Breast, Gynecologic and Perinatal Pathology, University of Leipzig, Leipzig, Germany; Department of Dermatology, Venereology, and Allergology, University Hospital of Leipzig, Leipzig, Germany; Institute of Human Genetics, University Hospital of Leipzig, Leipzig, Germany (literal)
- Titolo
- Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C (literal)
- Abstract
- The clinical course of a female patient affected by a progeroid syndrome with Restrictive Dermopathy (RD)-likefeatures was followed up. Besides missing hairiness, stagnating weight and growth, RD-like features including progressiveskin swelling and solidification, acrocontractures, osteolysis and muscular hypotension were observed until the patientdied at the age of 11 months. A homozygous LMNA mutation c.1303C>T (p.R435C) was found by Sanger sequencing.Haplotyping revealed a partial uniparental disomy of chromosome 1 (1q21.3 to 1q23.1) including the LMNA gene. Incontrast to reported RD patients with LMNA mutations, LMNA p.R435C is not located at the cleavage site necessary forprocessing of prelamin A by ZMPSTE24 and leads to a distinct phenotype combining clinical features of RestrictiveDermopathy, Mandibuloacral Dysplasia and Hutchinson-Gilford Progeria. Functionally, LMNA p.R435C is associated withincreasing DNA double strand breaks and decreased recruitment of P53 binding protein 1 (53BP1) to DNA-damage sitesindicating delayed DNA repair. The follow-up of the complete clinical course in the patient combined with functionalstudies showed for the first time that a progressive loss of lamin A rather than abnormal accumulation of prelamin Aspecies could be a pathophysiological mechanism in progeroid laminopathies, which leads to DNA repair deficiency accompanied by advancing tissue degeneration.© Starke et al. (literal)
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