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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents

ID: 539679.0, MPI für molekulare Genetik / Research Group Development and Disease
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
Authors:Graul-Neumann, L. M.; Kienitz, T.; Robinson, P. N.; Baasanjav, S.; Karow, B.; Gillessen-Kaesbach, G.; Fahsold, R.; Schmidt, H.; Hoffmann, K.; Passarge, E.
Date of Publication (YYYY-MM-DD):2010-11-01
Title of Journal:American Journal of Medical Genetics Part A
Journal Abbrev.:Am J Med Genet A
Issue / Number:11
Start Page:2749
End Page:2755
Copyright:© 2010 Wiley-Liss, Inc.
Review Status:not specified
Audience:Experts Only
Abstract / Description:We report on a 25-year-old woman with pronounced generalized lipodystrophy and a progeroid aspect since birth, who also had Marfan syndrome (MFS; fulfilling the Ghent criteria) with mild skeletal features, dilated aortic bulb, dural ectasia, bilateral subluxation of the lens, and severe myopia in addition to the severe generalized lipodystrophy. She lacked insulin resistance, hypertriglyceridemia, hepatic steatosis, and diabetes. Mutation analysis in the gene encoding fibrillin 1 (FBN1) revealed a novel de novo heterozygous deletion, c.8155_8156del2 in exon 64. The severe generalized lipodystrophy in this patient with progeroid features has not previously been described in other patients with MFS and FBN1 mutations. We did not find a mutation in genes known to be associated with congenital lipodystrophy (APGAT2, BSCL2, CAV1, PTRF-CAVIN, PPARG, LMNB2) or with Hutchinson-Gilford progeria (ZMPSTE24, LMNA/C). Other progeria syndromes were considered unlikely because premature greying, hypogonadism, and scleroderma-like skin disease were not present. Our patient shows striking similarity to two patients who have been published in this journal by O'Neill et al. [O'Neill et al. (2007); Am J Med Genet Part A 143A:1421-1430] with the diagnosis of neonatal progeroid syndrome (NPS). This condition also known as Wiedemann-Rautenstrauch syndrome is a rare disorder characterized by accelerated aging and lipodystrophy from birth, poor postnatal weight gain, and characteristic facial features. The course is usually progressive with early lethality. However this entity seems heterogeneous. We suggest that our patient and the two similar cases described before represent a new entity, a subgroup of MFS with overlapping features to NPS syndrome.
Free Keywords:Marfan syndrome;
neonatal progeroid syndrome;
FBN1 mutation
Comment of the Author/Creator:Correspondence: Luitgard M. Graul-Neumann, Institute of Medical Genetics, Charité Universitätsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1,
13353 Berlin, Germany.
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Institut für Humangenetik, Charité Universitätsmedizin Berlin, Berlin, Germany;
2.Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, Berlin, Germany;
3.Klinik für Innere Medizin m.S. Gastroenterologie, Hepatologie und Endokrinologie, Charité Universtitätsmedizin Berlin, Berlin, Germany;
4.Division of Nephrology, Department of Medicine, Neurology, and Dermatology University Hospital Leipzig, Leipzig, Germany;
5.Institut für Humangenetik, Universität zu Lübeck, Lübeck, Germany;
6.Überörtliche Gemeinschaftspraxis Mitteldeutschland, Praxis Prager & Junge, Dresden, Germany;
7.Transplant Hepatology, Universitätsklinikum Münster, Münster, Germany;
8.The Berlin Aging Study II, Research Group on Geriatrics, Charité University Medicine, Berlin, Germany;
9.Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany.
Identifiers:ISSN:1552-4825 10.1002/ajmg.a.33690 [ID No:1]
URL:http://www.ncbi.nlm.nih.gov/pubmed/20979188 [ID No:2]
DOI:10.1002/ajmg.a.33690 [ID No:3]
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