Ontology highlight
ABSTRACT:
SUBMITTER: Kortum F
PROVIDER: S-EPMC7830253 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Kortüm Friederike F Kieninger Sinja S Mazzola Pascale P Kohl Susanne S Wissinger Bernd B Prokisch Holger H Stingl Katarina K Weisschuh Nicole N
International journal of molecular sciences 20210116 2
We aimed to validate the effect of non-canonical splice site variants in the <i>RPGR</i> gene in five patients from four families diagnosed with retinitis pigmentosa. Four variants located in intron 2 (c.154 + 3_154 + 6del), intron 3 (c.247 + 5G>A), intron 7 (c.779-5T>G), and intron 13 (c.1573-12A>G), respectively, were analyzed by means of in vitro splice assays. Splicing analysis revealed different aberrant splicing events, including exon skipping and intronic nucleotide addition, which are pr ...[more]