Fig. 2.

(A) Pedigree 1: family with congenital tufting enteropathy including affected patients (P1, P2) and unaffected siblings (U1, U2). Generations are indicated by Roman numerals on the left. Affecteds (P1, P2) are double second cousins. (B) Homozygosity Mapping: Genome-wide homozygosity intervals are plotted for individuals P1 and P2. The y-axis indicates the length of the intervals and the x-axis shows relative chromosomal position with chromosomes indicated across the top of each panel. The homozygous blocks shared between P1 and P2 are shown in the bottom bar graph (P1 & P2). The interval identified as homozygous in both individuals is highlighted with a gray box bar across all three panels (C) Haplotype Structure of the Pedigree. Homozygous blocks on chromosome 2p21 that are shared by the two affected descendants (P1, P2) are shown as black bars with genotypes at the flanking ends shown with SNP IDs from dbSNP. 220 SNPs in the middle of each block are not shown for simplicity as all 220 SNPs are homozygous and common in both affected individuals. (D) EpCAM exon 4 donor splice site mutation in Pedigree 1: Nucleotides across x-axis with mutation in bold. Coding nucleotides in capital letters and intronic nucleotides in lower case. Homozygous mutant affected patients (P1, P2), Heterozygous unaffected sibling (U2), Normal Control (C1)