title: [Genotypic characterization of a Portuguese population of Marfan syndrome patients].
abstract: BACKGROUND
  The diagnosis of Marfan syndrome (MFS) depends on a multidisciplinary clinical evaluation. Molecular study to identify mutations in the FBN1 gene can establish a definitive diagnosis even with atypical or «incomplete» phenotypes and enable earlier diagnosis in asymptomatic patients.
  
  
  OBJECTIVE
  The aim of the present work was to evaluate the frequency and type of FBN1 gene mutations in a population of Marfan syndrome patients referred to a tertiary care center with cardiothoracic surgery.
  
  
  METHODS
  Our sample included 30 individuals with MFS (from 14 families), evaluated in cardiology, rheumatology and ophthalmology consultations. In all patients, DNA was extracted from a peripheral blood sample and mutation screening of the entire coding sequence of the FBN1 gene was then performed, using the polymerase chain reaction.
  
  
  RESULTS
  We identified 12 different mutations in the 14 families studied. Of these, only two had been previously described in the literature, while the other 10 were found to be new mutations; 36% of patients carried a missense mutation and 50% carried a mutation leading to a premature termination codon.
  
  
  CONCLUSIONS
  To the best of our knowledge this is the first genotypic description of Portuguese patients with MFS. In this study, we highlight the need for comprehensive clinical evaluation of these patients and the value of FBN1 mutation analysis in selected cases. By describing 10 new mutations, we have also helped broaden the spectrum of known FBN1 mutations associated with MFS.
authors: Serviço de Cardiologia, Hospital de S. João, Porto, Portugal. ana.lebreiro@gmail.com
authors: Ana
authors: A
authors: Lebreiro
authors: Elisabete
authors: E
authors: Martins
authors: Cristina
authors: C
authors: Cruz
authors: Jorge
authors: J
authors: Almeida
authors: Sofia
authors: S
authors: Pimenta
authors: Miguel
authors: M
authors: Bernardes
authors: José
authors: J
authors: Carlos Machado
authors: M
authors: M
authors: Júlia Maciel
authors: Cassiano
authors: C
authors: Abreu-Lima
mesh_terms: D000328:Adult; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005838:Genotype; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011174:Portugal; D055815:Young Adult; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines