Abstract:
:We aimed to validate the effect of non-canonical splice site variants in the RPGR 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 predicted to lead either to an in-frame deletion affecting relevant protein domains or to a frameshift of the open reading frame. Our data expand the landscape of pathogenic variants in RPGR, thereby increasing the genetic diagnostic rate in retinitis pigmentosa and allowing patients harboring the analyzed variants to be enrolled in clinical trials.
journal_name
Int J Mol Scijournal_title
International journal of molecular sciencesauthors
Kortüm F,Kieninger S,Mazzola P,Kohl S,Wissinger B,Prokisch H,Stingl K,Weisschuh Ndoi
10.3390/ijms22020850subject
Has Abstractpub_date
2021-01-16 00:00:00issue
2issn
1422-0067pii
ijms22020850journal_volume
22pub_type
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