July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosa
Author Affiliations & Notes
  • Gael Manes
    U1051, Inserm, Montpellier, France
    University of Montpellier, Montpellier, France
  • Xavier ZANLONGHI
    Eye Clinic Jules Verne, Nantes, France
  • Carmen Ayuso
    Departamento de Genética, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz, Madrid, Spain
  • Graeme Black
    The University of Manchester, Manchester, United Kingdom
  • Guillaume OLIVIER
    U1051, Inserm, Montpellier, France
    University of Montpellier, Montpellier, France
  • Béatrice Bocquet
    CHU Montpellier, Centre de référence maladies sensorielles génétiques, Montpellier, France
    University of Montpellier, Montpellier, France
  • Audrey Sénéchal
    U1051, Inserm, Montpellier, France
  • Isabelle Meunier
    CHU Montpellier, Centre de référence maladies sensorielles génétiques, Montpellier, France
    University of Montpellier, Montpellier, France
  • Christian Hamel
    CHU Montpellier, Centre de référence maladies sensorielles génétiques, Montpellier, France
    University of Montpellier, Montpellier, France
  • Footnotes
    Commercial Relationships   Gael Manes, None; Xavier ZANLONGHI, None; Carmen Ayuso, None; Graeme Black, None; Guillaume OLIVIER, None; Béatrice Bocquet, None; Audrey Sénéchal, None; Isabelle Meunier, None; Christian Hamel, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 2322. doi:
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      Gael Manes, Xavier ZANLONGHI, Carmen Ayuso, Graeme Black, Guillaume OLIVIER, Béatrice Bocquet, Audrey Sénéchal, Isabelle Meunier, Christian Hamel; Mutations in IMPG1 cause autosomal dominant and recessive retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 2018;59(9):2322.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To identify the causative mutation in a large family with autosomal dominant retinitis pigmentosa (adRP) and consequently to genetically characterize a cohort of RP patients without mutation in known genes.

Methods : A large adRP family without mutation in the known RP genes was screened for mutations using whole-exome sequenging (WES). Following the identification of an IMPG1 mutation, additional dominant and recessive RP probands were screened for mutation in this gene by targeted next-generation sequencing (tNGS). Clinical investigations included visual acuity and visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging, full-fields and multifocal electroretinogram (ERG) recording.

Results : By WES, a heterozygous splicing mutation in the IMPG1 gene, c.1824+1G>A was identified in a large family with adRP. Three more families with different novel missense mutations were identified. All the variants segregated with the disease phenotype and are predicted to be pathogenic.

Conclusions : We identified a novel causative gene, IMPG1, responsible for autosomal dominant and recessive retinitis pigmentosa (RP). IMPG1 was previously associated with vitelliform macular dystrophy (VMD). In conclusion, mutations in the same gene can lead to two clinical entities, RP and VMD as it was reported previously for IMPG2, paralog gene of IMPG1.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

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