Fig. 4: Identification and confirmation of intronic insertion variant, likely derived from an SVA retrotransposable element, in the last intron of MECP2.
From: Integrated multi-omics for rapid rare disease diagnosis on a national scale
a, Integrated Genomics Viewer (IGV) proband RNA (top) and DNA (bottom) short-read sequencing data indicating the presence of a DNA insertion resulting in the inclusion of a pseudo-exon in the last intron of MECP2. b, Nanopore sequencing data demonstrating the insertion. c, PCR gel electrophoresis of relevant MECP2 region in the proband (A0131084), parents (A0131084-M and A0131084-P) and a control sample (NA12878), consistent with an insertion of approximately 2.6 kb. This clinically accredited assay was performed once. d, Schematic of the observed splicing outcomes of MECP2 in the proband with the presence of a transposon-derived pseudo-exon, residual canonical splicing, skipping of the penultimate exon and intronic read-through. WT, wild-type.
