A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm.
Ann Thorac Surg
; 109(4): e279-e281, 2020 04.
Article
em En
| MEDLINE
| ID: mdl-31473177
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Aneurisma da Aorta Torácica
/
Cadeias Pesadas de Miosina
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Mutação de Sentido Incorreto
Tipo de estudo:
Prognostic_studies
Limite:
Aged
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Humans
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Male
Idioma:
En
Revista:
Ann Thorac Surg
Ano de publicação:
2020
Tipo de documento:
Article