%0 Journal Article
%T Genetic testing of 10 patients with features of Loeys-Dietz syndrome.
%A Luo M
%A Yang H
%A Yin K
%A Chen Q
%A Zhang J
%A Fan Y
%A Zhou Z
%A Chang Q
%J Clin Chim Acta
%V 456
%N 0
%D May 2016 1
%M 26877057
%F 6.314
%R 10.1016/j.cca.2016.02.005
%X 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.