title: Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.
abstract: BACKGROUND
  Marfan syndrome (MFS), inherited as an autosomal dominant trait, typically affects the cardiovascular, skeletal, and ocular systems. Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the lenses. EL, with or without minor skeletal changes, exists as an independent autosomal dominant phenotype linked to the same FBN1 locus.
  
  
  METHODS
  A consecutive series of 11 patients, affected predominantly by EL, was analysed for FBN1 mutations using PCR, SSCA, and sequencing.
  
  
  RESULTS
  Six mutations were identified, of which three are novel and one is recurrent in two patients, thus establishing a mutation incidence in this group of 7/11 (63%).
  
  
  CONCLUSIONS
  The FBN1 variants reported are clustered in the first 15 exons of the gene, while FBN1 mutations reported in the literature are distributed throughout the entire length of the gene. A different type of FBN1 mutation presents in this group of patients, compared with MFS, with arginine to cysteine substitutions appearing frequently.
authors.affiliation: Sonalee Laboratory for Marfan Syndrome and Related Disorders, St George's Hospital Medical School, London, UK. p.comeglio@sghms.ac.uk
authors.forename: P
authors.initials: P
authors.lastname: Comeglio
authors.forename: A L
authors.initials: AL
authors.lastname: Evans
authors.forename: G
authors.initials: G
authors.lastname: Brice
authors.forename: R J
authors.initials: RJ
authors.lastname: Cooling
authors.forename: A H
authors.initials: AH
authors.lastname: Child
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D004479:Ectopia Lentis / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009690:Nucleic Acid Conformation; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic / Q000235:genetics; D054392:Adipokines
chemical_list: D016326:Extracellular Matrix Proteins; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines