Genetic testing for Marfan syndrome
Author:
Rakhmanov Yeltay1, Maltese Paolo Enrico1, Marinelli Carla1, Castori Marco2, Beccari Tommaso3, Dundar Munis4, Bertelli Matteo15
Affiliation:
1. MAGI’s Lab , Rovereto , Italy 2. Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza , San Giovanni Rotondo (FG) , Italy 3. Department of Pharmaceutical Sciences , University of Perugia , Perugia , Italy 4. Department of Medical Genetics , Erciyes University Medical School , Kayseri , Turkey 5. MAGI Euregio , Bolzano , Italy
Abstract
Abstract
Marfan syndrome (MFS) is an inherited connective tissue disorder caused by heterozygous mutations in the FBN 1 gene. Clinical manifestations of MFS include aortic dilatation and dissection, as well as cardiac valvular, ocular, skeletal and neurological manifestations. Prevalence varies from 6 to 20 per 100,000 individuals. Revised Ghent Nosology (2010) is used to establish a clinically based suspected diagnosis to be confirmed by molecular testing. This Utility Gene Test was prepared on the basis of an analysis of the literature and existing diagnostic protocols. Molecular testing is useful for diagnosis confirmation, as well as differential diagnosis, appropriate genetic counselling and access to clinical trials.
Publisher
Walter de Gruyter GmbH
Subject
Genetics,Molecular Biology,Biomedical Engineering,Molecular Medicine,Food Science,Biotechnology
Reference10 articles.
1. Judge DP, Dietz HC. Marfan’s syndrome. Lancet 2005; 366(9501): 1965-1976.1632570010.1016/S0140-6736(05)67789-6 2. Radke RM, Baumgartner H. Diagnosis and treatment of Marfan syndrome: an update. Heart 2014; 100(17): 1382-1391.10.1136/heartjnl-2013-30470924777611 3. Hiratzka LF, Bakris GL, Beckman JA, Bersin RM, Carr VF, Casey DE Jr, Eagle KA, Hermann LK, Isselbacher EM, Kazerooni EA, Kouchoukos NT, Lytle BW, Milewicz DM, Reich DL, Sen S, Shinn JA, Svensson LG, Williams DM; American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American College of Radiology; American Stroke Association; Society of Cardiovascular Anesthesiologists; Society for Cardiovascular Angiography and Interventions; Society of Interventional Radiology; Society of Thoracic Surgeons; Society for Vascular Medicine. ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 2010;121(13): e266-369. 4. Silverman DI, Burton KJ, Gray J, Bosner MS, Kouchoukos NT, Roman MJ, Boxer M, Devereux RB, Tsipouras P. Life expectancy in the Marfan syndrome. Am J Cardiol; 75(2): 157-60.781049210.1016/S0002-9149(00)80066-1 5. Groth KA, Hove H, Kyhl K, Folkestad L, Gaustadnes M, Vejlstrup N, Stochholm K, Østergaard JR, Andersen NS, Gravholt CH. Prevalence, incidence, and age at diagnosis in Marfan Syndrome. Orphanet J Rare Dis 2015; 10: 153.2663123310.1186/s13023-015-0369-8
|
|