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PRPF31 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Protein: Pre-mRNA processing factor 31
  • Involves in pre-mRNA splicing (spliceosome)
  • Assembly and stability of the U4/U6•U5 tri-snRNP (small nuclear ribonucleoprotein particles) complex
  • Mutations result in altered levels of snRNP, delayed spliceosome assembly and inefficient splicing
Clinical phenotype
(OMIM phenotype no.)
Inheritance
  • Autosomal dominant
Signs for RP
  • Typical RP features
  • Vessel attenuation
  • Optic disc pallor
  • Mid-peripheral bone spicule pigmentation which progresses to retinal atrophy in later stages
  • Cystoid macular oedema may be present
  • Posterior sub-capsular cataracts
Visual function
  • Variable age of onset (nyctalopia/peripheral VF loss) but usually during the first 3 decades of life (6-71 years of age)
  • Progressive peripheral VF decline (6.9-8.1%/year) and VA loss (0.4-2%/year)
  • Central vision generally preserved until late in the disease course
  • 30 Hz cone flicker response deterioration is 7.3-9.2%/year
  • Variable expressivity and incomplete penetrance are common
Systemic features
  • No extraocular anomalies reported
Key investigations
  • ERG: Rod-cone dystrophy
  • FAF: Hypo-AF outside the vascular arcades with patchy macular hypo-AF/central hyper-AF ring; Rarely foveal hyper-AF
  • OCT: Preserved central ellipsoid zone (EZ) with loss of outer retinal layers paracentrally
  • Progressive decline of EZ area at 5.4%/year
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

Pathogenic variants in PRPF31 account for 2.5-10% of autosomal dominant (AD) RP.[8-11] It is one of the most common causative genes of AD-RP in the UK.[12]

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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.  Moore AT, Fitzke F, Jay M, et al. Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study. Br J Ophthalmol. 1993;77(8):473-479
  4.  al-Maghtheh M, Inglehearn CF, Keen TJ, et al. Identification of a sixth locus for autosomal dominant retinitis pigmentosa on chromosome 19. Hum Mol Genet. 1994;3(2):351-354
  5.  Vithana EN, Abu-Safieh L, Allen MJ, et al. A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell. 2001;8(2):375-381
  6.  Hafler BP, Comander J, Weigel DiFranco C, Place EM, Pierce EA. Course of Ocular Function in PRPF31 Retinitis Pigmentosa. Semin Ophthalmol. 2016;31(1-2):49-52
  7.  Kiser K, Webb-Jones KD, Bowne SJ, Sullivan LS, Daiger SP, Birch DG. Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa. Am J Ophthalmol. 2019;200:76-84
  8.  Waseem NH, Vaclavik V, Webster A, Jenkins SA, Bird AC, Bhattacharya SS. Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2007;48(3):1330-1334.  (5% of a mixed UK population)
  9.  Audo I, Bujakowska K, Mohand-Saïd S, et al. Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. BMC Med Genet. 2010;11:145. (6.7% in a french cohort)
  10.  Van Cauwenbergh C, Coppieters F, Roels D, et al. Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families. PLoS One. 2017;12(1):e0170038
  11.  Sullivan LS, Bowne SJ, Seaman CR, et al. Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2006;47(10):4579-4588
  12.  Pontikos N, Arno G, Jurkute N, et al. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom [published online ahead of print, 2020 Apr 16]. Ophthalmology. 2020;S0161-6420(20)30332-8

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Updated on December 1, 2020
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