Figure 3

Genomic variant haplotypes in interval-defining members of the pedigree. A) Allele inheritance and haplotypes for the inheritance of the key microsatellite markers, and new genomic sequence variants, across PCDH12, SPRY4, FGF1 and NR3C1 genes in eight members of Family S. For each sequence variant, offspring inherit one allele from their mother and one from their father. Occasional alleles where it was not possible to determine parental origin (and which were therefore not used for haplotype construction) are denoted in non-bold italics. Individual II.5 demonstrates the disease haplotype across the interval, a haplotype which is now shared by II.1, but not II.3 and her descendants until rs17209237 in NR3C1. Therefore II.3 excludes the centromeric region between rs153148 and the novel SNP in FGF1. B) Haplotypes for the inheritance of the new genomic sequence variants across the PPP2R2B gene in nine members of Family S. Affected individuals II.1, II.3, II.5, III.3 and III.4 demonstrate the disease haplotype which is not shared by II.9 at rs 11958187, but is shared at rs12110022, rs 6879694, and the remainder of the HHT3 interval. Therefore II.9 excludes rs11958187 and beyond from the telomeric extreme of the interval.]: uninformative regions; bp: base pairs.