Figure 2. A novel FBN1 missense mutation in exon 50. A: The pedigree of Family 2 is shown. Slashed symbols denote that the subject is deceased. Symbols with a question mark in the center indicate that the member is not diagnosed clearly. B: A heterozygous G>T transversion (indicated by the arrow) resulted in the substitution of cysteine-2061 by phenylalanine (C2061F) in an affected subject. C: The corresponding normal sequence in an unaffected family member is shown by an arrow.