Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies
Population
81 patients referred for Marfan syndrome or Marfan-like phenotypes, diagnosed according to Ghent criteria.
Design
Case_series
Authors
Discussion
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Member takes
Implication
May aid early Marfan diagnosis in atypical phenotypes; extends FBN1 mutation spectrum but remains hypothesis-generating.
Structured PICO
P
Population
81 patients referred for Marfan syndrome (MFS) or Marfan-like phenotypes, diagnosed according to Ghent criteria.
I
Intervention
Genotyping of the FBN1 gene using direct sequencing and DHPLC analysis.
O
Outcome
Identification of FBN1 mutations and genotype-phenotype correlations.
Genotyping of FBN1 in Marfan syndrome patients identified 64 novel mutations, highlighting the clinical relevance of genetic testing for early diagnosis in atypical phenotypes.
Cite This Study
Arbustini et al. (2005) studied this question.