Sequence variations in the 5′ upstream regions of the FBN1 gene associated with Marfan syndrome

被引：0
作者：
Krishna Kumar Singh
Praphulla Chandra Shukla
Kathrin Rommel
Jörg Schmidtke
Mine Arslan-Kirchner
机构：
[1] Institute of Human Genetics,Department of Cardiology and Angiology
[2] Hannover Medical School,undefined
[3] Hannover Medical School,undefined
来源：
European Journal of Human Genetics | 2006年 / 14卷
关键词：
5′ upstream alternatively spliced exons; association; Marfan syndrome;
D O I：
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中图分类号：
学科分类号：
摘要：
Marfan syndrome (MFS; OMIM#154700) is a connective tissue disorder characterized by manifestations in the ocular, skeletal and cardiovascular systems. MFS is caused by mutation in the fibrillin-1 gene (FBN1; OMIM#134797) and more than 550 mutations have been identified so far. FBN1 is ∼230 kb in size and contains three evolutionarily conserved alternatively spliced exons B, A and C at the 5′end. In a first systematic attempt to associate sequence variations in the FBN1 5′ alternatively spliced exons with MFS, we investigated 41 individuals fulfilling the diagnostic criteria of Ghent nosology or with features of MFS including at least one major criterion or involvement of two organ systems but not fulfilling a strict interpretation of the Ghent nosology, and known to be negative for mutations in the FBN1 exons 1–65 as well as the TGFBR2 and TGFBR1 coding regions. We identified five novel and one previously reported variants in the six unrelated probands and provide preliminary evidence for their role in pathogenesis.
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页码：876 / 879
页数：3
相关论文
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