Genetic testing of 10 patients with features of Loeys-Dietz syndrome.
Clin Chim Acta
; 456: 144-148, 2016 May 01.
Article
en En
| MEDLINE
| ID: mdl-26877057
ABSTRACT
Inherited aortopathy, characterized with a high risk of fetal aortic aneurysms/dissections, could occur secondary to several syndromes. To identify genetic mutations and help to give a precise diagnosis, we performed a gene panel testing, involving 15 genes related to inherited aortopathy. Here we reported 10 patients, combining with the genetic testing results, were diagnosed or suspected with Loeys-Dietz syndrome, which would be the largest group of Loeys-Dietz syndrome ever reported in China till now. 10 likely pathogenic mutations or rare variants of uncertain significance were found. These results expanded the mutation spectrum of Loeys-Dietz syndrome and might be implicated in its wide phenotypic spectrum.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
/
Síndrome de Loeys-Dietz
Tipo de estudio:
Prognostic_studies
Límite:
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Clin Chim Acta
Año:
2016
Tipo del documento:
Article