Fig. 2

Unmasking of Alu element insertion in KMT2D exon 36 through reverse genotyping approach. A Visual reassessment of the previously performed gene panel sequencing using Integrative Genomics Viewer (IGV) software showing soft-clipped reads mapping on KMT2D exon 36 along with increased covering depth. B Alignment data of the in silico-retrieved inserted sequence consistent with an Alu element insertion, as per RepeatMasker tool. C PCR analysis ascertaining the heterozygous KMT2D insertion in the proband, resulting in an abnormal 627 bp amplicon absent in both parents and the negative control. D Breakpoint analysis corroborating the in silico-expected Alu element insertion within KMT2D. Alu element sequence is shown in italic while TSD pattern is underlined. E Summarized diagram of the reported Alu element exonic insertion in KMT2D as a novel molecular mechanism responsible for Kabuki syndrome type 1 (GRCh37/hg19)