The papers below describe people who have a change in the PRPF8gene. They are written for doctors and scientists. They describe small groups of people and cannot predict what will happen for an individual child.
Atkinson R et al. PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5'-splice-site selection causing tissue-specific defects.Nat Commun. 2024;15(1):3138. PMID: 38605034.
Fahim AT et al. Nonsyndromic Retinitis Pigmentosa Overview.GeneReviews [Internet]. Seattle (WA): University of Washington; updated 2023 Apr 6. Bookshelf ID: NBK1417.
Koljonen L et al. A de novo PRPF8 pathogenic variant in transient severe hypophosphatemia with delayed puberty and growth failure.Horm Res Paediatr. 2025;98(6):677-687. PMID: 38976971.
McKie AB et al. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).Hum Mol Genet. 2001;10(15):1555-1562. PMID: 11468273.
Merz LM et al. CAKUT variants in PRPF8, DYRK2 and CEP78: implications for splicing and ciliogenesis. bioRxiv [Preprint]. 2025 Jul 21. PMID: 40777246.
Micheal S et al. Variants in the PRPF8 gene are associated with glaucoma. Mol Neurobiol. 2018;55(5):4504-4510. PMID: 28707069.
Mirinezhad MR et al. Reporting a homozygous case of neurodevelopmental disorder associated with a novel PRPF8 variant.Mol Genet Genomic Med. 2025;13(3):e70084. PMID: 40066647.
O'Grady L et al. Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders. Am J Med Genet A. 2022;188(9):2750-2759. PMID: 35543142.
Towns KV et al. Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes. Hum Mutat. 2010;31(5):E1361-E1376. PMID: 20232351.