Figure 1. A novel FBN1 splice mutation in intron 17. A: The pedigree of Family 1 is shown. Squares and circles indicate males and females, respectively, and the darkened symbols represent the affected members. The patient above the arrow is the proband. An asterisk indicates the subject underwent clinical and molecular analyses. B: The partial nucleotide sequence of FBN1 in an affected member is shown. A heterozygous change G>T (indicated by the arrow) was identified at the boundary of intron 17 and exon 18. C: The corresponding normal sequence in an unaffected family member is displayed by an arrow.