FIGURE 2.

RNA sequencing reveals aberrant splicing in GNB1 in Patient 1. (a) Splicing reads from RNA sequencing of whole blood are shown for Patient 1 as well as 6 unrelated, unaffected control patients. No reads skipping exon 10 were detected in the patient, and none of the control samples displayed splicing into alternate cryptic splice sites in exon 10. (b) Aberrant splicing into exon 10 in Patient 1 includes 131 reads splicing 38 base pairs into exon 10 and 8 reads splicing 54 base pairs into exon 10. About 581 reads represent normal splicing from exon 9 to exon 10. GNB1 GenBank reference sequence NM_002074.4.