Fig. 1. Fine-mapping of the acheiropodia-associated deletion.

a Pedigree of acheiropodia family with proband indicated via the arrow. Squares and circles represent males and females, respectively. b WGS alignments showing a homozygous 12 kb deletion in the acheiropodia proband. The Y-axis is the read depth (number of reads for each nucleotide). The deletion appears in a heterozygous manner in both parents. BP: breakpoint; P: proband; M: mother; F: father. c PCR amplification using three different primers pairs, whose location is indicated in b, further confirming the breakpoint in the proband (P) and mother (M) and father (F). PCR was performed several times using different primer sets to validate the deletion. d Sanger sequencing of the acheiropodia patient showing the breakpoint sequence which also has a CA insertion.