Fig. 3

NM_004247.4 (EFTUD2): c.702G > T variant induces exon skipping. a Electrophoresis gel of EFTUD2 cDNA obtained after amplification of the variant region from the proband and its parents. The proband displays two bands, one at 360 bp and one at 280 bp. b Electropherogram from Sanger sequencing 360 bp and 280 bp bands from the electrophoresis gel in A. The exon 8 is highlighted in red, the exon 9 in green and the exon 10 in blue. The exon 9 – exon 10 junction of EFTUD2 cDNA shows exon 9 skipping in cDNA of 280 bp band which is presented only in the proband. c Schematic representation of the exon 9 skipping in the mutant allele of the proband compared to the wild type (WT) allele