• 作者：Roberto Barriales-Villa^a ; ^{rbarrialesv@gmail.com} ; Diego Garcí ; a-Giustiniani^a ; Lorenzo Monserrat^b
• 关键词：Sí ; ndrome de Marfan ; Gené ; tica ; Mutació ; n ; Fibrilina 1
• 刊名：Cardiocore
• 出版年：2011
• 出版时间：July-September 2011
• 年：2011
• 卷：46
• 期：3
• 页码：101-104
• 全文大小：239 K

In 1896 the French physician Antoine Bernard-Jean Marfan presented the case of a 5 years old girl in the Medical Society of the Paris Hospital, with disproportionately long limbs and fingers. He called this condition as dolichost¨¦nom¨¦lie. In 1986, the fibrillin-1 is identified as the major extracellular matrix component presents in all tissues with phenotypic manifestations of the disease and in 1991, after several previous linkage studies, the Marfan syndrome is related with the fibrillin gene (FBN1), describing two patients with a mutation in that gene (R239P). This event allowed the integration of genetics in the study of patients with Marfan syndrome, including in 1996 the identification of a mutation in FBN1 as a major criterion in the diagnosis of the syndrome and recently, in the new diagnostic criteria published in 2010, even a greater weight is assigned to genetic studies in the diagnosis of Marfan syndrome and other related syndromes. Since then, over 1700 mutations have been identified in the fibrillin-1 gene associated with Marfan syndrome, other genes related with the disease have been discovered and other disease-related genes with phenotypes very similar to the Marfan syndrome (which need a thorough differential diagnosis) have been also identified.