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Updated: Mar 25, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genetic testing of 10 patients with features of Loeys-Dietz syndrome
Mingyao Luo1, Hang Yang2, Kunlun Yin2
1State Key Laboratory of Cardiovascular Disease, Center of Vascular Surgery, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100037, People's Republic of China.
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.
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