Abstract
Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue, typically characteristic of cardiovascular manifestations, valve prolapse, left ventricle enlargement, and cardiac failure. Fibrillin-1 (FBN1) is the causative gene in the pathogenesis of MFS. Patients with different FBN1 mutations often present more considerable phenotypic variation. In the present study, three affected MFS pedigrees were collected for genetic analysis. Using next-generation sequencing (NGS) technologies, 3 novel frameshift pathogenic mutations which are cosegregated with affected subjects in 3 pedigrees were identified. These novel mutations provide important diagnostic and therapeutic insights for precision medicine in MFS, especially regarding the lethal cardiovascular events.
References
Aug 28, 1995·American Journal of Medical Genetics·T AoyamaH Furthmayr
Jan 14, 2000·Journal of Medical Genetics·P N Robinson, M Godfrey
Aug 26, 2003·Human Mutation·Gwenaëlle Collod-BéroudCatherine Boileau
Jul 13, 2006·American Journal of Medical Genetics. Part a·Haruya SakaiNaomichi Matsumoto
Jul 2, 2010·Journal of Medical Genetics·Bart L LoeysAnne M De Paepe
Aug 3, 2010·Nature Methods·Jana Marie SchwarzDominik Seelow
Jul 10, 2012·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Wen-Jing WangXiao-Li Tian
Oct 29, 2013·Gene·Jan J J AalbertsMaarten P van den Berg
Aug 8, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Linnea M BaudhuinSusan A Lagerstedt
Sep 1, 2014·European Heart Journal·Raimund ErbelUNKNOWN ESC Committee for Practice Guidelines
Apr 23, 2015·Circulation. Cardiovascular Genetics·Harry C Dietz
Jan 3, 2016·The Canadian Journal of Cardiology·Michael N Singh, Ronald V Lacro
Jan 21, 2016·European Heart Journal·Romy FrankenBarbara J M Mulder
Feb 26, 2016·Forensic Science International : Synergy·Yunyun WangQian Liu
Feb 27, 2016·Human Mutation·Aline VerstraetenBart Loeys
Jul 21, 2016·Gene·Lynn Y SakaiJulie De Backer
Oct 19, 2016·Molecular Biology Reports·Jin'e WangYibo Wang
Nov 18, 2016·Journal of the American Heart Association·Farina LoeperRichmond Jeremy
May 5, 2017·Heart·Romy FrankenArtur Evangelista
Jun 10, 2017·Heart·Benjamin J LandisStephanie M Ware