Faculty Opinions recommendation of A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.

2002 ◽  
Author(s):  
Lynne Maquat
Keyword(s):  
Marfan Syndrome ◽  
Nonsense Mutation ◽  
Syndrome Patient ◽  
Exonic Splicing Enhancer ◽  
Fibrillin 1 ◽  
Splicing Enhancer

scholarly journals PTEN c.511C>T Nonsense Mutation in a BRRS Family Disrupts a Potential Exonic Splicing Enhancer and Causes Exon Skipping

2006 ◽  
Vol 36 (12) ◽  
pp. 814-821 ◽  
Author(s):  
Kanya Suphapeetiporn ◽  
Pradermchai Kongkam ◽  
Jarturon Tantivatana ◽  
Thivaratana Sinthuwiwat ◽  
Siraprapa Tongkobpetch ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Exon Skipping ◽  
Exonic Splicing Enhancer ◽  
Splicing Enhancer

Recurrent spontaneous coronary dissections in a patient with a de novo fibrillin-1 mutation without Marfan syndrome

2015 ◽  
Vol 113 (03) ◽  
pp. 668-670 ◽  
Author(s):  
Philipp von Hundelshausen ◽  
Konrad Oexle ◽  
Kiril Bidzhekov ◽  
Martin Schmitt ◽  
Michael Hristov ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
De Novo ◽  
Fibrillin 1

scholarly journals Linking C5 Deficiency to an Exonic Splicing Enhancer Mutation

2005 ◽  
Vol 174 (7) ◽  
pp. 4172-4177 ◽  
Author(s):  
Nicole Pfarr ◽  
Dirk Prawitt ◽  
Michael Kirschfink ◽  
Claudia Schroff ◽  
Markus Knuf ◽  
...  
Keyword(s):  
Exonic Splicing Enhancer ◽  
Splicing Enhancer

scholarly journals Cardiomyopathy in Genetic Aortic Diseases

2021 ◽  
Vol 9 ◽  
Author(s):  
Laura Muiño-Mosquera ◽  
Julie De Backer
Keyword(s):  
Marfan Syndrome ◽  
Myocardial Dysfunction ◽  
Genetic Defect ◽  
Positive Family History ◽  
Aortic Disease ◽  
Aortic Aneurysms ◽  
Aortic Diseases ◽  
Pathogenic Variants ◽  
Fibrillin 1

Genetic aortic diseases are a group of illnesses characterized by aortic aneurysms or dissection in the presence of an underlying genetic defect. They are part of the broader spectrum of heritable thoracic aortic disease, which also includes those cases of aortic aneurysm or dissection with a positive family history but in whom no genetic cause is identified. Aortic disease in these conditions is a major cause of mortality, justifying clinical and scientific emphasis on the aorta. Aortic valve disease and atrioventricular valve abnormalities are known as important additional manifestations that require careful follow-up and management. The archetype of genetic aortic disease is Marfan syndrome, caused by pathogenic variants in the Fibrillin-1 gene. Given the presence of fibrillin-1 microfibers in the myocardium, myocardial dysfunction and associated arrhythmia are conceivable and have been shown to contribute to morbidity and mortality in patients with Marfan syndrome. In this review, we will discuss data on myocardial disease from human studies as well as insights obtained from the study of mouse models of Marfan syndrome. We will elaborate on the various phenotypic presentations in childhood and in adults and on the topic of arrhythmia. We will also briefly discuss the limited data available on other genetic forms of aortic disease.

scholarly journals A Case of Neonatal Marfan Syndrome: A Management Conundrum and the Role of a Multidisciplinary Team

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Elliott J. Carande ◽  
Samuel J. Bilton ◽  
Satish Adwani
Keyword(s):  
Marfan Syndrome ◽  
Surgical Intervention ◽  
Rare Condition ◽  
Mitral Valve Regurgitation ◽  
Left Ventricular ◽  
Cardiac Complications ◽  
Chromosome 15 ◽  
Fibrillin 1 ◽  
Neonatal Marfan Syndrome

Neonatal Marfan syndrome (nMFS) is a rare condition with a poor prognosis. It is genotypically and phenotypically distinct from the typical Marfan syndrome and carries a poorer prognosis. This case report describes the progression of a 14-month-old girl diagnosed with nMFS at 5 months of age. Her diagnosis followed the identification of a fibrillin-1 mutation (FBN1gene, exon 26, chromosome 15), which is a common locus of nMFS. This patient developed severe cardiac complications resulting in congestive cardiac failure in early life and required major cardiac surgery. Since surgical intervention, our patient is still reliant on a degree of ventilator support, but the patient has gained weight and echocardiography has demonstrated improved left ventricular function and improved tricuspid and mitral valve regurgitation. Therefore, we argue the importance of a cautious multidisciplinary approach to early surgical intervention in cases of nMFS.

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