2011
DOI: 10.1038/ejhg.2010.239
|View full text |Cite
|
Sign up to set email alerts
|

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections

Abstract: Mutations in the gene encoding smooth muscle cell alpha actin (ACTA2) have recently been shown to cause familial thoracic aortic aneurysms leading to type A dissections (TAAD) and predispose to premature stroke and coronary artery disease. In order to further explore the role of ACTA2 variations in the pathogenesis of TAAD, we sequenced the coding regions of this gene in 40 unrelated German patients with TAAD (with (n¼21) or without (n¼19) clinical features suggestive of Marfan syndrome). All patients had prev… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1

Citation Types

0
25
0
1

Year Published

2012
2012
2022
2022

Publication Types

Select...
8

Relationship

0
8

Authors

Journals

citations
Cited by 31 publications
(26 citation statements)
references
References 20 publications
(35 reference statements)
0
25
0
1
Order By: Relevance
“…(Arg287Trp)S H-TAD2632c.887 T > C*p. (Leu296Pro)S H-TAD2720c.1155-2A > G*/S H-TAD ACTA2 2861c.115C > T [19,38]p. (Arg39Cys)NS H-TAD2917c.455C > T [18]p.…”
Section: Resultsmentioning
confidence: 99%
See 1 more Smart Citation
“…(Arg287Trp)S H-TAD2632c.887 T > C*p. (Leu296Pro)S H-TAD2720c.1155-2A > G*/S H-TAD ACTA2 2861c.115C > T [19,38]p. (Arg39Cys)NS H-TAD2917c.455C > T [18]p.…”
Section: Resultsmentioning
confidence: 99%
“…(Arg149Cys)NS H-TAD3059c.772C > T [25]p. (Arg258Cys)NS H-TAD3132c.910G > A [38]p. (Gly304Ser)NS H-TAD COL3A1 3240c.3410G > A [39]p.…”
Section: Resultsmentioning
confidence: 99%
“…Interestingly, ACTA2 mutations seem to increase risk not only for aneurysms/dissections, but also for occlusive arterial disease including premature stroke, premature coronary artery disease and Moya-Moya disease [Guo et al, 2009]. While MYH11 mutations appear to be rare (only 5 mutations reported so far) and have been exclusively described in association with patent ductus arteriosus, ACTA2 mutations were found to be responsible for approximately 14-21% of fTAAD and are believed to interfere with the normal assembly of actin filaments [Hoffjan et al, 2011]. Recently, mutations in the gene encoding the kinase that controls SMC contractile function (myosin light chain kinase (MYLK) on chromosome 3q21) were also shown to cause familial aortic dissections [Wang et al, 2010].…”
Section: Familial Thoracic Aortic Aneurysms and Dissectionsmentioning
confidence: 99%
“…Mutations in ␣-smooth muscle actin, encoded by ACTA2, are the most common genetic cause of familial thoracic aortic aneurysm and dissection (TAAD) 3 (1). More than 30 ACTA2 mutations have been identified to cause this potentially fatal disorder and are now known to differentially cause additional vascular diseases, including coronary artery disease, occlusive stroke, and patent ductus arteriosus (2-7).…”
mentioning
confidence: 99%