Mutations in TGFBR2 gene cause spontaneous cervical artery dissection.
J Neurol Neurosurg Psychiatry
; 82(12): 1372-4, 2011 Dec.
Article
em En
| MEDLINE
| ID: mdl-21270064
ABSTRACT
Mutations in the genes encoding transforming growth factor ß receptors 1 and 2 (TGFBR1 and TGFBR2) have recently been associated with hereditary connective tissue disorders with widespread vascular involvement, including arterial dissection. To determine whether mutations in these genes cause spontaneous cervical artery dissection (sCAD), all coding exons of TGFBR1 and TGFBR2 were sequenced in 56 consecutive patients with sCAD. Novel TGFBR2 disease causing mutations were found in two patients. The two mutations were the pK327R substitution affecting the kinase domain of TGFBR2 and the pC138R substitution falling in the extracellular domain of the protein, involved in TGFß binding and signalling. No TGFBR1 mutation was found. The findings indicate that TGFBR2 gene mutations are responsible for sCAD in 3.6% (95% CI 0.0 to 8.4) of cases, have implications in understanding the role of TGFß signalling in the pathogenesis of sCAD and emphasise the importance of considering molecular characterisation of the TGFBR2 gene in these patients, regardless of the presence of clinical features suggestive of hereditary connective tissue disorders.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteínas Serina-Treonina Quinases
/
Aneurisma da Aorta Torácica
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Receptores de Fatores de Crescimento Transformadores beta
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Dissecção Aórtica
Limite:
Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
J Neurol Neurosurg Psychiatry
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Itália