Fig. 1: Aberrant splicing patterns in minigenes of five different splicing-disrupting mutation groups in genetic disorders.

a SF3B4 (c.417C>T): The synonymous exonic mutation of SF3B4c.417C>T introduces a new intron within the exon, resulting in the production of a transcript with partial exon loss in the mutant minigene. b The P3H1 minigene produces transcripts with a complete intron retained and spliced in the wild type. However, an intronic P3H1 c.1224-80G>A mutation creates an alternative donor site, leading to a transcript with partial intron retention and loss of the spliced transcript. c The intronic DKC1 c.915+10G>A mutation creates an alternative donor site near the wild-type constitutive donor site. In the mutant minigene, both the wild-type and new donor sites are used, resulting in two aberrant transcripts. d This intronic mutation, ARFGEF1 c.1337+1713T>G, generates a new acceptor site and activates a new nearby donor site, leading to the generation of cryptic exons in the mutant minigene. e The intronic mutation AP4E1 c.151-542G>A functions as an exonic enhancer, leading to the creation of cryptic exons. In the mutant minigene, two cryptic exon transcripts were observed, which were absent in the wild-type minigene.