Figure 2.

(A) Pedigree of the patient (III-2), indicated with the arrow. The dot (II-4) indicates heterozygous carrier status; horizontal hatching (II-5) indicates a recent history of intermittent constipation. (B) Gene schema of ACTG2 with deletion indicated (red bar). The deletion harbored by the patient corresponds to part of exon 6 of 9, and part of intron 6. (C) Representation of whole-genome sequencing reads overlapping the intragenic ACTG2 deletion (red bar) for the proband (P) and mother (M). Colored nucleotides indicate bases that are mismatched with respect to the reference genome, because of the deletion. (D) Schema of the deletion (red bar) at the single base level, with the 24 deleted base pairs of exon 6 shown.