Figure 1.

Family histories and massively parallel RNA sequencing (RNA-seq) provide evidence that MUTYH NM_001128425.1 c.934-2A > G is likely benign. (A) Pedigrees from retrospective analysis of cohort representing a homozygous proband (right) and two compound heterozygote probands (center and left). (B) Schematic representation of reverse transcription polymerase chain reaction (RT-PCR) primer design (top), the wild type (WT; solid lines) transcript, and the two splicing events observed: r.934_942del9 (dotted lines) and r.933 + 1_934-1ins79 (dashed lines). (C) Sashimi plot of the two heterozygous probands (red) and two controls (orange) showing RNA-seq reads supporting the partial exon deletion (top arch), wild type (middle arch), and intron inclusion (bottom line). (D) Quantitation of percent spliced in (PSI) for r.933 + 1_934-1ins79 (gray) and r.934_942del9 (white) observed in massively parallel RNA-seq.