Figure 3. Pedigree of the Wagner family, linkage and mutation analysis of the versican (VCAN) gene. A: The pedigree of the family studied consisted in ten affected and six unaffected participating individuals, providing strong evidence of autosomal dominant mode of inheritance. Filled symbols represent affected individuals, whereas clear symbols refer to unaffected individuals. The arrow indicates the first proband examined in our ophthalmologic center. Segregation analysis of microsatellite markers encompassing the WGN1 locus on chromosome 5q14.3. The disease-associated haplotype is boxed and is shared between all affected members. The genetic markers and the corresponding allele are listed in map order. B: Partial sequence chromatograms of intron 7–exon 8 boundary of the VCAN gene from one affected individual (V.5) and one normal control subject (V.4) showing a heterozygous adenine to thymine transversion at the second base of the 3′ acceptor splice site of intron 7 (c.4004–2A>T).