SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections

被引：73

作者：

Micha, Dimitra ^{[1
]}

Guo, Dong-chuan ^{[2
]}

Hilhorst-Hofstee, Yvonne ^{[3
]}

van Kooten, Fop ^{[4
]}

Atmaja, Dian ^{[1
,5
]}

Overwater, Eline ^{[1
,6
]}

Cayami, Ferdy K. ^{[1
,5
]}

Regalado, Ellen S. ^{[2
]}

van Uffelen, Rene ^{[7
]}

Venselaar, Hanka ^{[8
]}

Faradz, Sultana M. H. ^{[5
]}

Vriend, Gerrit ^{[8
]}

Weiss, Marjan M. ^{[1
]}

Sistermans, Erik A. ^{[1
]}

Maugeri, Alessandra ^{[1
]}

Milewicz, Dianna M. ^{[2
]}

Pals, Gerard ^{[1
]}

van Dijk, Fleur S. ^{[1
]}

机构：

[1] Vrije Univ Amsterdam, Med Ctr, Ctr Connect Tissue Res, Dept Clin Genet, NL-1007 MB Amsterdam, Netherlands

[2] Univ Texas Hlth Sci Ctr Houston, Dept Internal Med, Houston, TX 77030 USA

[3] Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

[4] Erasmus MC, Dept Neurol, NL-3000 CAY Rotterdam, Netherlands

[5] Diponegoro Univ, Fac Med, Ctr Biomed Res, Semarang, Central Java, Indonesia

[6] Acad Med Ctr, Dept Clin Genet, NL-1100 DD Amsterdam, Netherlands

[7] Albert Schweitzer Hosp, Dept Resp Med, NL-3318 AT Dordrecht, Netherlands

[8] Ctr Mol & Biomol Genet CMBI, NL-6500 HB Nijmegen, Netherlands

来源：

HUMAN MUTATION | 2015年 / 36卷 / 12期

关键词：

SMAD2; TGF-beta; aneurysm; dissection; THORACIC AORTIC-ANEURYSMS; TGFB3; ACTIVATION; FEATURES; PATHWAY; MARFAN; DOMAIN; GENE;

D O I：

10.1002/humu.22854

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report three families with arterial aneurysms and dissections in which variants predicted to be pathogenic were identified in SMAD2. Moreover, one variant occurred de novo in a proband with unaffected parents. SMAD2 is a strong candidate gene for arterial aneurysms and dissections given its role in the TGF-beta signaling pathway. Furthermore, although SMAD2 and SMAD3 probably have functionally distinct roles in cell signaling, they are structurally very similar. Our findings indicate that SMAD2 mutations are associated with arterial aneurysms and dissections and are in accordance with the observation that patients with pathogenic variants in genes encoding proteins involved in the TGF-beta signaling pathway exhibit arterial aneurysms and dissections as key features (C) 2015 Wiley Periodicals, Inc.

引用

页码：1145 / 1149

页数：5

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