September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP)
Author Affiliations & Notes
  • Fares Antaki
    McGill University Health Center, The McGill Ocular Genetics Laboratory, Montreal, Quebec, Canada
  • Razek Georges Coussa
    McGill University Health Center, The McGill Ocular Genetics Laboratory, Montreal, Quebec, Canada
  • Christina Chakarova
    UCL-Institute of Ophthalmology, London, United Kingdom
  • Susan Wakil
    McGill University Health Center, The McGill Ocular Genetics Laboratory, Montreal, Quebec, Canada
  • Vincent Sun
    McGill University Health Center, The McGill Ocular Genetics Laboratory, Montreal, Quebec, Canada
  • Pierre Lachapelle
    Department of Ophthalmology and Neurology-Neurosurgery, Montréal Children's Hospital-Research Institute, McGill University, Montreal, Quebec, Canada
  • Allison Dorfman
    McGill University Health Center, The McGill Ocular Genetics Laboratory, Montreal, Quebec, Canada
  • Irma Lopez
    McGill University Health Center, The McGill Ocular Genetics Laboratory, Montreal, Quebec, Canada
  • Kunka Kamenarova
    Department of Cellular Therapy and Regenerative Medicine, Andalusian Molecular Biology and Regenerative Medicine Centre, Sevilla, Spain
  • Shomi S Bhattacharya
    UCL-Institute of Ophthalmology, London, United Kingdom
  • Robert K Koenekoop
    McGill University Health Center, The McGill Ocular Genetics Laboratory, Montreal, Quebec, Canada
  • Footnotes
    Commercial Relationships   Fares Antaki, None; Razek Georges Coussa, None; Christina Chakarova, None; Susan Wakil, None; Vincent Sun, None; Pierre Lachapelle, None; Allison Dorfman, None; Irma Lopez, None; Kunka Kamenarova, None; Shomi Bhattacharya, None; Robert Koenekoop, None
  • Footnotes
    Support  FFB-Canada, CIHR, FRSQ and NIH
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 127. doi:
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      Fares Antaki, Razek Georges Coussa, Christina Chakarova, Susan Wakil, Vincent Sun, Pierre Lachapelle, Allison Dorfman, Irma Lopez, Kunka Kamenarova, Shomi S Bhattacharya, Robert K Koenekoop; A novel heterozygous mutation in PRPH2/RDS gene causing a spectrum of phenotypic manifestations in a family with autosomal dominant retinitis pigmentosa (adRP). Invest. Ophthalmol. Vis. Sci. 2016;57(12):127.

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      © 2017 Association for Research in Vision and Ophthalmology.

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Abstract

Purpose : Retinitis pigmentosa (RP) is a hereditary group of clinically and genetically heterogeneous retinal dystrophies that eventually lead to blindness. The genetics of RP are still incomplete despite intense studies. Currently, about 50 genes explain ~50% of cases. We studied a Canadian family of Syrian origin with adRP and aimed to identify the causal gene.

Methods : Next generation sequencing, family linkage analysis using Affymetrix Human Map 250K Nsp Array and exome capture (AROS, Denmark) were sequentially performed on selected patients. The disease locus was mapped to chromosome 6p, close to the PRPH2/RDS gene. PCR based Sanquer sequencing of the PRPH2/RDS gene was performed in order to identify the novel mutation. Phenotypes were characterized by visual acuity, funduscopy, Goldmann visual fields, OCT (Heidelberg Engineering Inc, Germany), fundus autofluorescence and ERG.

Results : A novel heterozygous mutation in PRPH2/RDS (del352_356TGCTGinsCT) in all affected individuals was identified. The mutation was associated with a wide spectrum of phenotypic manifestations. In particular, the initial proband (MOGL 322) showed severe progressive disease with non-recordable ERGs as well as typical tunnel vision constriction while other patients showed normal fundi and FAF and abnormal ERGs.

Conclusions : We have successfully identified a novel mutation in PRPH2/RDS leading to adRP. The full extent of the mutation spectrum and severity is currently being investigated. Our findings are crucial in expanding the current understanding of inherited retinal blinding diseases in order to provide new avenues for therapeutic interventions and help in patients’ counselling.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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