Marfan Syndrome (MFS): Inherited Microfibrillar Disorder Caused by Mutations in the Fibrillin-1 Gene

Chapter

Abstract

There have been several studies suggesting that FBN1 gene was responsible for the Marfan syndrome (MFS) phenotype [1–4] before announcing the localisation of the gene on chromosome 15q21.1 in 1991 [3, 5, 6]. Subsequently, many research laboratories started to screen FBN1 in their MFS patients. Many mutations have been mapped to this gene due to this increase in genetic screening and international collaborations confirming FBN1 as the gene responsible for Marfan syndrome [7–15]. This has been the final proof to confirm that the FBN1 gene is the cause of MFS.

Keywords

Autosomal dominant inheritance Calcium binding epidermal growth factor-like (cbEGF-like) domains Cysteine Deletions dHPLC analysis Disulphide bonds Duplications Ectopia Lentis (EL) Exons Fibrillin-1 (FBN1) gene Genomic DNA Genotype-phenotype association Haploinsufficiency Incidence Introns Life expectancy Microfibrillar Mitral valve Aorta Skeleton Skin syndrome (MASS) MLPA technique Modifiers Mutation screening Neonatal region Next generation sequencing (NGS) Non-synonymous causative variations Non-synonymous variants Nucleotide sequence Overlapping syndromes Promoter Sanger sequencing Spliceosome Spontaneous mutation Thoracic Aortic Aneurysm and Dissection (TAAD) Transforming growth factor-β binding protein-like (TGFBP) Universal mutation database (UMD) Whole genome/exome sequencing 

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Copyright information

© Springer-Verlag London 2016

Authors and Affiliations

  1. 1.Sonalee Laboratory, Cardiovascular and Cell Sciences Research InstituteSt George’s, University of LondonLondonUK
  2. 2.Cardiovascular and Cell Sciences Research InstituteSt George’s, University of LondonLondonUK

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