Genotype-phenotype analysis of a novel mutation of FBN1 gene in a Chinese Marfan syndrome family

摘要

Objective causing mutation in a Marfan syndrome(MFS)family with a proband,and to establish genotype-phenotype correlations.Methods Genomic DNA from peripheral blood leukocytes of a Chinese Marfan syndrome familial were isolated and screened for fibrillin-1(FBN1)mutations by direct sequencing,and a genotypephenotype study was carried out following a review of the literature on mutations in the searched area.