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. 2024 Jul 14;5(4):100327. doi: 10.1016/j.xhgg.2024.100327

Figure 2.

Figure 2

Functional analysis of the variant identified in family 1

(A) Sashimi plot showing partial skipping of exon 9 NDC1 in both affected individuals from family 1. These samples were not treated with cycloheximide (CHX–).

(B) Schematic representation of the effect of the homozygous NDC1:c.892-21G>A variant on splicing. In approximately 60% of the reads skipping of exon 9 is observed.

(C) Minigene assay confirming the effect of the NDC1:c.892-21G>A variant on splicing. HEK293T cells were transfected with plasmid DNA isolated from two independent clones containing NDC1 with the c.892-21G>A variant, two clones with WT NDC1 sequence, or an empty vector. RT-PCR of the transcribed minigene was performed showing that the NDC1:c.892-21G>A induces skipping of exon 9 not seen in WT samples. NC, negative control.