Fig. 3.

Results of the experimental data. ( A ) Sequencing results from next-generation sequencing showing an intronic hemizygous variant (c.232–25A > T) in MTM1 gene. ( B ) MTM1 cDNA analysis. A smaller aberrant transcript was observed in patient's resulting PCR products (P, patient; C, control; NT, nontemplate). Subsequent sequencing for further characterization showed the absence of exon 5 but also a residual full-length transcript, not visible by gel electrophoresis. ( C ) Schematic representation of the variant and resulting transcripts. At gDNA level, the variant is located in intron 4 of MTM1 at a potential branch-point site. mRNA studies confirmed that this variant compromises mRNA splicing process, resulting in two transcripts: a predominant transcript with an in-frame deletion (exon 5 skipping) and a residual full-length transcript.