Figure 1. Illustration of pericentromeric region of chromosome 20 to which PPCD1 has been mapped, demonstrating multiple sequence reads that identify a mutation in the gene LOC100270804. The common PPCD1 interval is shown within the NimbleGen sequence capture target region as a solid black bar. The bar below it is the tiled region showing breaks where the sequence capture was blocked to prevent binding of repetitive DNA sequences. Also depicted are genes mapped to the common PPCD1 interval, including LOC100270804, in which a G>T sequence variant in exon 2 is identified in the heterozygous state.