Genetic testing of 10 patients with features of loeys-dietz syndrome

Research paper by Mingyao Luo, Hang Yang, Kunlun Yin, Qianlong Chen, Jing Zhang, Yuxin Fan, Zhou Zhou, Qian Chang

Indexed on: 14 Mar '16Published on: 11 Feb '16Published in: Clinica Chimica Acta


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.

Figure 10.1016/j.cca.2016.02.005.0.jpg