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

European Journal of Human Genetics : EJHG
Krishna Kumar SinghMine Arslan-Kirchner

Abstract

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 approximately 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.

References

Dec 1, 1986·The Journal of Cell Biology·L Y SakaiE Engvall
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Jul 6, 2004·Nature Genetics·Takeshi MizuguchiNaomichi Matsumoto
Apr 30, 2005·Current Opinion in Cardiology·Catherine BoileauNaomichi Matsumoto

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Citations

Mar 20, 2008·European Journal of Human Genetics : EJHG·Krishna Kumar SinghJoerg Schmidtke
Apr 8, 2010·European Journal of Human Genetics : EJHG·Mine Arslan-KirchnerLaurence Faivre
Feb 4, 2012·Journal of Negative Results in Biomedicine·Krishna K SinghMine Arslan-Kirchner
Jun 20, 2008·Annals of Vascular Surgery·Y C ChanS W Cheng
Nov 13, 2007·The International Journal of Biochemistry & Cell Biology·Gao GuoPeter N Robinson

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