Figure 1

Detection and breakpoint definition of CTNNA3 deletions in the discovery pedigree. (A, C) Sequence electropherograms with breakpoint-spanning sequences in the mother and in the father, respectively (NCBI build 36 coordinates). In (A) the two base pairs (AT), common to both ends, are highlighted in blue. (B) GenomeStudio plots of the log R ratio and B allele frequency data from the 1 M-Duo SNP array for family 3456. The deletions result in a decrease in the log R ratio and a lack of heterozygous variants (the expected allelic ratio for heterozygous variants is 0.5). The deleted SNPs are depicted in red, and the red rectangle indicates the region deleted on both alleles in the proband.