Molecular analysis for diagnosis of Marfan syndrome and Marfan-associated disorders

作     者：GAO Ling-gen YAO Xiu-ping ZHANG Lin HUI Ru-tai ZHOU Xian-liang 

作者机构：Department of Cardiology Fuwai Hospital and Cardiovascular InstituteChinese Academy of Medical Sciences and Peking Union Medical College Beijing 100037 China Department of Very Important Person Health Care General Hospital of Beijing Armed Police Forces Beijing 100027 China Department of Very Important Person Health Care General Hospital of Chinese People's Armed Police Forces Beijing 100039 China Sino-German Laboratory for Molecular Medicine Key Laboratory for Clinical Cardiovascular Genetics Ministry of Education Fuwai Hospital and Cardiovascular InstituteChinese Academy of Medical Sciences and Peking Union Medical College Beijing 100037 China 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2011年第000卷第6期

页      面：930-934页

核心收录：

学科分类：0501[文学-中国语言文学] 05[文学] 050106[文学-中国现当代文学] 

主　　题：Marfan syndrome molecular analysis Marfan-associated disorders 

摘      要：Marfan syndrome is a systemic disorder of connective tissue, caused by mutations in the FBN1, TGFBR1 or TGFBR2 genes. This syndrome is characterized by involvement of three major systems, skeletal, ocular, and cardiovascular. The continuing improvements in molecular biology and increasing availability of molecular diagnosis in clinical practice allow recognition of Marfan syndrome in patients with incomplete phenotypes. Additionally, molecular analyses could also be used for preimplantation genetic diagnosis. The identification of a mutation allows for early diagnosis, prognosis, genetic counseling, preventive management of carriers and reassurance for unaffected relatives. The importance of knowing in advance the location of the putative family mutation is highlighted by its straightforward application to prenatal and postnatal screening.