Extended Data Fig. 8. LZTR1 minor intron retention in cancer predisposition syndromes.

(a) Sanger sequence electropherogram of the LZTR1 intron 18 retained isoform (from a representative affected family member in Figure 6d; corresponds to the top band in the LZTR1 RT-PCR gel in Figure 5d) and LZTR1 normal spliced isoform from a control fibroblast sample (corresponds to the bottom band in the LZTR1 RT-PCR gel in Figure 6d). Red arrow indicates mutant nucleotide in the affected family members. (b) RNA-seq coverage plots of LZTR1 in fibroblasts from Noonan syndrome family and controls. Zoom in magnifies the minor intron of LZTR1. (c) As (b), but zoomed in on the region of mutation in the father. (d) As (b), but zoomed in on the region of mutation within LZTR1’s minor intron.