FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.
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DOI：
10.1016/j.gene.2016.07.033
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发表时间：
2016-10-10
期刊：
影响因子：
3.5
通讯作者：
De Backer J
中科院分区：
文献类型：
--
作者：
Sakai LY;Keene DR;Renard M;De Backer J
FBN 1编码的基因，为tuberculin-1，一种结构大分子，聚合成微纤维。原纤维蛋白微纤维是形态上独特的原纤维，存在于所有结缔组织中并组装成组织特异性结构框架。FBN 1是马凡氏综合征的致病基因，马凡氏综合征是一种遗传性结缔组织疾病，其主要特征包括高大身材和蛛网膜囊肿、晶状体异位、胸主动脉瘤和夹层。FBN 1中超过1000个个体突变与马凡氏综合征相关，使得基因型-表型相关性变得困难。此外，FBN 1特定区域的突变可导致Weill-Marchesani综合征和其他肢端发育不良特征性的身材矮小和短指（趾）畸形的相反特征。一个分子的突变如何导致不同的临床综合征？目前的概念的原纤维蛋白病需要一个升值的组织特异性微纤维微环境和微纤维网络和生物功能，如生长因子信号的调节之间的协作关系的结构。
FBN1 encodes the gene for fibrillin-1, a structural macromolecule that polymerizes into microfibrils. Fibrillin microfibrils are morphologically distinctive fibrils, present in all connective tissues and assembled into tissue-specific architectural frameworks. FBN1 is the causative gene for Marfan syndrome, an inherited disorder of connective tissue whose major features include tall stature and arachnodactyly, ectopia lentis, and thoracic aortic aneurysm and dissection. More than one thousand individual mutations in FBN1 are associated with Marfan syndrome, making genotype-phenotype correlations difficult. Moreover, mutations in specific regions of FBN1 can result in the opposite features of short stature and brachydactyly characteristic of Weill-Marchesani syndrome and other acromelic dysplasias. How can mutations in one molecule result in disparate clinical syndromes? Current concepts of the fibrillinopathies require an appreciation of tissue-specific fibrillin microfibril microenvironments and the collaborative relationship between the structures of fibrillin microfibril networks and biological functions such as regulation of growth factor signaling.
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