Fig. 2

Family pedigree and molecular characterization of the FBN1 variant. a Family pedigree. Black square and circle indicates the individuals affected (II:2, II:3). b PCR-RFLP analysis of the R2726W FBN1 variant. The 214-bp amplification product was submitted to MspI cleavage. Lines 2 and 3, heterozygous variant (patients II:2 and II:3); lines 3 and 4, wild-type genotype (I:2 and II:1). MspI cleaves a 214-bp fragment into 27- and 187-bp fragments in the presence of the C wild-type allele, whereas the T mutant allele is not cleaved. c The R2726W variant in exon 64 of FBN1. Electropherogram showing the corresponding normal sequence in unaffected family members: a) Mother (I:1), b) brother (II:1), c and d) the C to T heterozygous variant in II:2 and II:3, indicated by the arrow, resulting in the substitution of arginine by tryptophan (R2726W)