A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm.

Details

Serval ID
serval:BIB_3CCA95B6B94E
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm.
Journal
The Annals of thoracic surgery
Author(s)
Pucci L., Pointet A., Good J.M., Davoine E., Cina V., Zanchi F., Deglise S., Duchosal L.M., Kirsch M.
ISSN
1552-6259 (Electronic)
ISSN-L
0003-4975
Publication state
Published
Issued date
04/2020
Peer-reviewed
Oui
Volume
109
Number
4
Pages
e279-e281
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Abstract
MYH11 (myosin heavy chain 11) gene is involved in vascular contractility and several autosomal dominant mutations have been linked to thoracic aortic aneurysms. Three male members of the same family were found to carry a heterozygous missense variant in the MYH11 gene and all 3 individuals presented a thoracic aortic aneurysm/dilation. We identified a rare missense variant in the MYH11 gene predicted to be damaging and affecting a conserved amino acid in the myosin tail of the protein. This variant appears to be responsible for our familial case of thoracic aortic aneurysms, as the clinical expression reunited all features of genetic aneurysms.
Keywords
Aged, Aortic Aneurysm, Thoracic/genetics, Humans, Male, Mutation, Missense, Myosin Heavy Chains/genetics
Pubmed
Web of science
Create date
13/09/2019 18:57
Last modification date
08/12/2020 7:24
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