Marfan Syndrome Caused by Somatic Mosaicism in an FBN1 Splicing Mutation

被引:9
作者
Rekondo, Javier [1 ,2 ]
Robledo-Inarritu, Maria [1 ]
Vado, Yerai [3 ]
Perez de Nanclares, Guiomar [3 ]
Aros, Fernando [1 ,2 ]
机构
[1] OSI Araba Hosp Univ, Inst Invest Sanitaria BioAraba, Serv Cardiol, Vitoria, Alava, Spain
[2] Inst Salud Carlos III, CIBER Fisiopatol Obesidad & Nutr CIBEROBN, Madrid, Spain
[3] OSI Araba Hosp Univ, Inst Invest Sanitaria BioAraba, Lab Epi Genet Mol, Vitoria, Alava, Spain
来源
REVISTA ESPANOLA DE CARDIOLOGIA | 2016年 / 69卷 / 05期
关键词
GENE;
D O I
10.1016/j.rec.2016.01.018
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:520 / 521
页数:2
相关论文
共 6 条
[1]   Severe Marfan syndrome due to FBN1 exon deletions [J].
Blyth, Moira ;
Foulds, Nicola ;
Turner, Claire ;
Bunyan, David .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (10) :1320-1324
[2]   The clinical spectrum of complete FBN1 allele deletions [J].
Hilhorst-Hofstee, Yvonne ;
Hamel, Ben C. J. ;
Verheij, Joke B. G. M. ;
Rijlaarsdam, Marry E. B. ;
Mancini, Grazia M. S. ;
Cobben, Jan M. ;
Giroth, Cindy ;
Ruivenkamp, Claudia A. L. ;
Hansson, Kerstin B. M. ;
Timmermans, Janneke ;
Moll, Henriette A. ;
Breuning, Martijn H. ;
Pals, Gerard .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (03) :247-252
[3]   Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome [J].
Hung, Chia-Cheng ;
Lin, Shin-Yu ;
Lee, Chien-Nan ;
Cheng, Hui-Yu ;
Lin, Shuan-Pei ;
Chen, Ming-Ren ;
Chen, Chih-Ping ;
Chang, Chien-Hui ;
Lin, Chiou-Ya ;
Yu, Chih-Chieh ;
Chiu, Hsin-Hui ;
Cheng, Wen-Fang ;
Ho, Hong-Nerng ;
Niu, Dau-Ming ;
Su, Yi-Ning .
ANNALS OF HUMAN GENETICS, 2009, 73 :559-567
[4]   The revised Ghent nosology for the Marfan syndrome [J].
Loeys, Bart L. ;
Dietz, Harry C. ;
Braverman, Alan C. ;
Callewaert, Bert L. ;
De Backer, Julie ;
Devereux, Richard B. ;
Hilhorst-Hofstee, Yvonne ;
Jondeau, Guillaume ;
Faivre, Laurence ;
Milewicz, Dianna M. ;
Pyeritz, Reed E. ;
Sponseller, Paul D. ;
Wordsworth, Paul ;
De Paepe, Anne M. .
JOURNAL OF MEDICAL GENETICS, 2010, 47 (07) :476-485
[5]   Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome [J].
Montgomery, RA ;
Geraghty, MT ;
Bull, E ;
Gelb, BD ;
Johnson, M ;
McIntosh, I ;
Francomano, CA ;
Dietz, HC .
AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (06) :1703-1711
[6]   Novel FBN1 gene mutation and maternal germinal mosaicism as the cause of neonatal form of Marfan syndrome [J].
Sipek, Antonin, Jr. ;
Grodecka, Lucie ;
Baxova, Alice ;
Cibulkova, Petra ;
Dvorakova, Magdalena ;
Mazurova, Stella ;
Magner, Martin ;
Zeman, Jiri ;
Honzik, Tomas ;
Freiberger, Tomas .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (06) :1559-1564