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Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant
ConclusionIn conclusion,FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early onset familial abdominal aortic aneurysms.
Source: Molecular Genetics & Genomic Medicine - November 28, 2018 Category: Genetics & Stem Cells Authors: Eline Overwater, Rifka Efrat, Daniela Q. C. M. Barge ‐Schaapveld, Phillis Lakeman, Marjan M. Weiss, Alessandra Maugeri, J. Peter van Tintelen, Arjan C. Houweling Tags: ORIGINAL ARTICLE Source Type: research

Gastrointestinal Symptoms in Marfan Syndrome and Hypermobile Ehlers-Danlos Syndrome.
Conclusion: FGIDs are reported in both Marfan syndrome and hypermobile Ehlers-Danlos syndrome but appear to be more common and severe in hEDS. These patients score lower on quality of life scores as well despite hypermobility being a common feature of both conditions. Further work is needed to understand the impact of connective tissue disorders on gastrointestinal symptoms. PMID: 30151001 [PubMed]
Source: Gastroenterology Research and Practice - August 29, 2018 Category: Gastroenterology Tags: Gastroenterol Res Pract Source Type: research

Dural ectasia and FBN1 mutation screening of 40 patients with Marfan syndrome and related disorders: Role of dural ectasia for the diagnosis.
Abstract Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the gene encoding fibrillin-1 (FBN1), a matrix component of microfibrils. Dural ectasia , i.e. enlargement of the neural canal mainly located in the lower lumbar and sacral region , frequently occurs in Marfan patients. The aim of our study was to investigate the role of dural ectasia in raising the diagnosis of Marfan syndrome and its association with FBN1 mutations. We studied 40 unrelated patients suspected for MFS, who underwent magnetic resonance imaging searching for dural ectasia. In all of them FBN1 gene ...
Source: European Journal of Medical Genetics - May 14, 2013 Category: Genetics & Stem Cells Authors: Attanasio M, Pratelli E, Porciani MC, Evangelisti L, Torricelli E, Pellicanò G, Abbate R, Gensini GF, Pepe G Tags: Eur J Med Genet Source Type: research

Enhanced Caspase Activity Contributes to Aortic Wall Remodeling and Early Aneurysm Development in a Murine Model of Marfan Syndrome.
CONCLUSIONS: Caspase inhibition attenuates aneurysm development in an Fbn1(C1039G/+) Marfan mouse model. Mechanistically, during apoptosis, caspases are expressed on the cell surface of SMCs and likely contribute to elastin degradation and aneurysm development in Marfan syndrome. PMID: 25359856 [PubMed - as supplied by publisher]
Source: Arteriosclerosis, Thrombosis and Vascular Biology - October 30, 2014 Category: Cardiology Authors: Emrich FC, Okamura H, Dalal AR, Penov K, Merk DR, Raaz U, Hennigs JK, Chin JT, Miller MO, Pedroza AJ, Craig JK, Koyano TK, Blankenberg FG, Connolly AJ, Mohr FW, Alvira CM, Rabinovitch M, Fischbein MP Tags: Arterioscler Thromb Vasc Biol Source Type: research

Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene
Int Heart J. 2022 Jul 14. doi: 10.1536/ihj.21-821. Online ahead of print.ABSTRACTMarfan syndrome is an autosomal dominant genetic disorder of the fibrous connective tissue caused by pathogenic mutations in the fibrillin-1 gene. Neonatal Marfan syndrome is a rare type of Marfan syndrome that is genotypically and phenotypically different from classical Marfan syndrome and has a poor prognosis. Most patients with neonatal Marfan syndrome die during infancy due to severe and rapidly progressive cardiovascular disorders. Here, we present a case of an 11-year-old girl with neonatal Marfan syndrome due to a novel missense mutatio...
Source: International Heart Journal - July 13, 2022 Category: Cardiology Authors: Takahiro Motonaga Yuji Ohnishi Seigo Okada Yasuo Suzuki Takashi Furuta Mai Kawamura Naoko Okayama Yutaka Suehiro Shunji Hasegawa Source Type: research