title: Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.
abstract: Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder typically involving the ocular, skeletal and cardiovascular systems, and aortic aneurysms/dissection mainly contributes to its mortality. Here, we performed genetic testing of the FBN1 gene in 39 Chinese probands with Marfan/Marfan-like syndrome and their related family members by Sanger sequencing. In total, 29 pathogenic/likely pathogenic FBN1 mutations, including 17 novel ones, were identified. In addition, most MFS patients with aortic disease (62%) had a truncating or splicing mutation. These results expand the FBN1 mutation spectrum and enrich our knowledge of genotype-phenotype correlations. Genetic testing for MFS and its related aortic diseases is increasingly important for early intervention and treatment.
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, People's Republic of China.
authors.forename: Hang
authors.initials: H
authors.lastname: Yang
authors.affiliation: State 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.
authors.forename: Mingyao
authors.initials: M
authors.lastname: Luo
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, People's Republic of China.
authors.forename: Qianlong
authors.initials: Q
authors.lastname: Chen
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, People's Republic of China.
authors.forename: Yuanyuan
authors.initials: Y
authors.lastname: Fu
authors.affiliation: State 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.
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.affiliation: State 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.
authors.forename: Xiangyang
authors.initials: X
authors.lastname: Qian
authors.affiliation: State 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.
authors.forename: Xiaogang
authors.initials: X
authors.lastname: Sun
authors.affiliation: John Welsh Cardiovascular Diagnostic Laboratory, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
authors.forename: Yuxin
authors.initials: Y
authors.lastname: Fan
authors.affiliation: State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, People's Republic of China. Electronic address: zhouzhou@fuwaihospital.org.
authors.forename: Zhou
authors.initials: Z
authors.lastname: Zhou
authors.affiliation: State 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. Electronic address: chqfw@yahoo.com.
authors.forename: Qian
authors.initials: Q
authors.lastname: Chang
mesh_terms: D002681:China; D005260:Female; D000071838:Fibrillin-1 / Q000097:blood / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; C000605722:FBN1 protein, human; D054392:Adipokines
keywords: Aortic disease; FBN1 gene; Genetic testing; Marfan syndrome