Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3.
Eur J Vasc Endovasc Surg
; 50(6): 816-21, 2015 Dec.
Article
em En
| MEDLINE
| ID: mdl-26409702
ABSTRACT
OBJECTIVE/BACKGROUND:
In rare genetic vascular syndromes the diagnosis may not be apparent from the phenotype, but might be important for proper management.METHODS:
A previously healthy woman without dysmorphic features presented with pregnancy associated vascular dissections and aneurysms. Next generation clinical exome sequencing was performed.RESULTS:
The differential diagnosis of spontaneous arterial dissection is outlined. The patient's diagnosis became evident after clinical exome sequencing detected a novel missense mutation in the evolutionary conserved region of SMAD3, confirming the diagnosis of Loeys-Dietz syndrome (LDS) type 3. A brief overview of the various types of LDS and their management is presented.CONCLUSION:
Clinical exome sequencing proved useful in diagnosing LDS type 3 where detailed vascular surveillance and timely intervention with a low threshold is recommended.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Análise Mutacional de DNA
/
Testes Genéticos
/
Mutação de Sentido Incorreto
/
Proteína Smad3
/
Síndrome de Loeys-Dietz
/
Exoma
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article