A heterozygous mutation of the elastin gene (eln:p.val154met) fully co-segregates with classic marfan phenotype in a sardinian family: a possible novel disease-gene?
نویسندگان
چکیده
Marfan syndrome (MFS, MIM #154700) is an autosomal dominant disorder of the extra cellular matrix affecting the connective tissue with cardiovascular, skeletal, neurological, integumental and ocular abnormalities.1 More than 85% of MFS cases are causally linked to mutations in the fibrillin-1 gene (FBN1, 15q21.1). In 1994, a second locus (MFS2) (MIM #154705) was found to map at 3p25–p24.22 after the identification of a family with autosomal dominant MFS not linked to FBN1 gene harbouring a 3p24.1 chromosomal breakpoint disrupting the transforming growth factor beta type II receptor (TGFBR2) gene in a Japanese individual with MFS. Subsequently additionally reports showed association of TGFBR2 mutations with MFS.2−4 Presently 3 genes (FBN1, TGFBR2 and LTBP) are associated with MFS classic phenotype presenting different degrees of clinical signs expression and variability (Table 1).4,5
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