Skip to main content
. 2021 Aug 23;29(12):1789–1795. doi: 10.1038/s41431-021-00947-1

Fig. 2. The effects of SLIRP mutations on RNA level.

Fig. 2

A Schematic diagram of the abnormal splicing event induced by the SLIRP c.98-178 A > G variant, showing the positions of the novel 5′ and 3′ cryptic splice site and the encoded stop codon resulting from partial retention of intron 1. Exons and introns are not drawn to scale. B PCR product of entire SLIRP cDNA. The control showed the expected wild-type size, whereas the patient had an additionally larger transcript product (n = 3). C Sequence analysis after cloning patient SLIRP cDNA revealed a 106 bp retention from intron 1 due to the c.98-178 A > G variant in SLIRP gene.