PRPF3 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Protein: Pre-mRNA processing factor 3
  • Involves in pre-mRNA splicing (spliceosome)
  • Stabalisation of the U4/U6•U5 tri-snRNP (mall nuclear ribonucleoprotein particles)
  • Mutations result in altered levels of snRNP, delayed spliceosome assembly and inefficient splicing
Clinical phenotype
(OMIM phenotype no.)
Inheritance
  • Autosomal dominant
Signs for RP
  • Vessel attenuation
  • Optic disc pallor
  • Mid-peripheral bone spicule pigmentation which progresses to retinal atrophy in later stages
  • RPE mottling
  • Fundus may appear normal in the early stages
Visual functionAutosomal dominant RP
  • Nyctalopia onset usually during 1st to 2nd decade of life
  • Some have later onset of nyctalopia (4th decade of life)
  • Progressive peripheral VF and VA loss
  • ERG responses usually extinguished by 4th decade
  • Patients tend to be myopic
  • Variable expressivity
Systemic features
  • No extraocular anomalies reported
Key investigations
  • ERG: absent responses/severe rod-cone dystrophy
  • FAF: Central hyper-AF ring surrounded by diffuse hypo-AF
  • OCT scan to assess outer retinal layer and RPE integrity
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (retinal)
  • Whole exome sequencing
  • Whole genome sequencing
Management
Therapies under research
  • None at present
Further information

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Additional information

Reported variants are located in the C-terminal region.[1,3]

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References

  1.  Růžičková Š, Staněk D. Mutations in spliceosomal proteins and retina degeneration. RNA Biol. 2017;14(5):544-552
  2.  Zahid S, Branham K, Schlegel D, et al. Retinal Dystrophy Gene Atlas. Springer; 2018
  3.  Zhong Z, Yan M, Sun W, et al. Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa [published correction appears in Sci Rep. 2017 Mar 28;7:45248]. Sci Rep. 2016;6:37840
  4.  Vaclavik V, Gaillard MC, Tiab L, Schorderet DF, Munier FL. Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene. Mol Vis. 2010;16:467-475
  5.  Inglehearn CF, Tarttelin EE, Keen TJ, et al. A new dominant retinitis pigmentosa family mapping to the RP18 locus on chromosome 1q11-21. J Med Genet. 1998;35(9):788-789
  6.  Wada Y, Itabashi T, Sato H, Tamai M. Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene. Graefes Arch Clin Exp Ophthalmol. 2004;242(11):956-961

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Updated on November 30, 2020
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