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Article

Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa.

Genes - 18 Apr 2023

Koller Samuel, Beltraminelli Tim, Maggi Jordi, Wlodarczyk Agnès, Feil Silke, Baehr Luzy, Gerth-Kahlert Christina, Menghini Moreno, Berger Wolfgang

Abstract excerpt

X-linked retinitis pigmentosa (XLRP) caused by mutations in the RPGR gene is one of the most severe forms of RP due to its early onset and intractable progression. Most cases have been associated with genetic variants within the purine-rich exon ORF15 region of this gene. RPGR retinal gene therapy is currently being investigated in several clinical trials. Therefore, it is crucial to report and functionally...

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Identifiers

PMID: 37107692
DOI: 10.3390/genes14040934
PMCID: PMC10137330

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