Phenotypic Variability in Marfan Syndrome in a Family With a Novel Nonsense FBN1 Gene Mutation

被引:0
作者
Diaz de Bustamante, Aranzazu [1 ]
Ruiz-Casares, Eva [2 ]
Teresa Darnaude, M. [1 ]
Perucho, Teresa [2 ]
Martinez-Quesada, Gabriel [3 ]
机构
[1] Hosp Univ Mostoles, Unidad Genet, Madrid, Spain
[2] Genyca Innova, Genet Lab, Madrid, Spain
[3] Hosp Univ Mostoles, Med Interna Serv, Madrid, Spain
来源
REVISTA ESPANOLA DE CARDIOLOGIA | 2012年 / 65卷 / 04期
关键词
D O I
10.1016/j.rec.2011.05.031
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:380 / 381
页数:3
相关论文
共 50 条
[31]   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
[32]   Three novel mutations in the fibrillin gene (FBN1) in Marfan syndrome patients [J].
Arbustini, E ;
Fasani, R ;
Grasso, M ;
Diegoli, M ;
Pilotto, A ;
Banchieri, N ;
Porcu, E ;
Sapone, L ;
Magani, F ;
Larizza, D ;
Cetta, G .
EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 :60-60
[33]   Uncovering an Unusual FBN1 Gene Mutation Responsible for Marfan Syndrome: A Case Study [J].
Jimenez-Berrios, Gabriel A. ;
Vazquez-Folch, Sebastian J. ;
Izquierdo, Natalio .
CUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (05)
[34]   A Novel Variant in the FBN1 Gene Causing Marfan Syndrome: A Case Report [J].
Jimenez-Berrios, Gabriel A. ;
Vazquez-Folch, Sebastian J. ;
Izquierdo, Natalio .
CUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (03)
[35]   Girl With Ectopia Lentis, and Possibly Marfan Syndrome, caused by a FBN1 Gene Mutation [J].
Zechner, Ulrich ;
Bartsch, Oliver ;
Iurian, Sorin Ioan .
EUROPEAN JOURNAL OF PEDIATRICS, 2017, 176 (11) :1496-1497
[36]   A novel FBN1 mutation in Marfan's syndrome with giant aortic root aneurysm [J].
Shi, J. ;
Wang, J. ;
Zhang, Y. ;
Zhang, Y. ;
Hou, Q. ;
Zhang, L. ;
Xie, M. .
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 2024, 117 (07) :536-537
[37]   Functional Analysis of an Intronic FBN1 Pathogenic Gene Variant in a Family With Marfan Syndrome [J].
Hu, Kui ;
Wan, Yun ;
Lee, Fu-Tsuen ;
Chen, Jinmiao ;
Wang, Hao ;
Qu, Haonan ;
Chen, Tao ;
Lu, Wang ;
Jiang, Zhenwei ;
Gao, Lufang ;
Ji, Xiaojuan ;
Sun, Liqun ;
Xiang, Daokang .
FRONTIERS IN GENETICS, 2022, 13
[38]   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
[39]   IDENTIFICATION OF A NOVEL NONSENSE MUTATION IN THE FIBRILLIN GENE (FBN1) USING NONISOTOPIC TECHNIQUES [J].
HAYWARD, C ;
PORTEOUS, MEM ;
BROCK, DJH .
HUMAN MUTATION, 1994, 3 (02) :159-162
[40]   A Novel Nonsense Variant of FBN1 in Marfan Syndrome With Abdominal Aortic Aneurysm and Aortic Root Aneurysm [J].
Hu, Chengkai ;
Zhang, Li ;
Jin, Anli ;
Yuan, Tong ;
Zhang, Yuchong ;
Qiu, Shouji ;
Guo, Wei ;
Wang, Lixin .
CJC OPEN, 2025, 7 (03) :307-309