June 2020
Volume 61, Issue 7
Free
ARVO Annual Meeting Abstract  |   June 2020
Genetic Testing Identifies Known and Unknown Mutations in Iranian Families with Hereditary Retinal Diseases
Author Affiliations & Notes
  • Zeinab Ravesh
    Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom
  • Arash Salmaninejad
    Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran (the Islamic Republic of)
  • Neda Sepahi
    Noncommunicable Diseases Research Center, Fasa University of Sciences, Fasa, Iran (the Islamic Republic of)
  • Atta Ur Rehman
    Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland
  • Nicola Bedoni
    Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland
  • Alireza Pasdar
    Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran (the Islamic Republic of)
    Division of Applied Medicine, Medical School, University of Aberdeen, Aberdeen, United Kingdom
  • Mathieu Quinodoz
    Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland
    Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom
  • Virginie Gisèle Peter
    Institute of Experimental Pathology, Lausanne University Hospital (CHUV), Lausanne, Switzerland
    Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
  • Majid Mojarrad
    Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran (the Islamic Republic of)
  • Ali Ghanbari Asad
    Noncommunicable Diseases Research Center, Fasa University of Sciences, Fasa, Iran (the Islamic Republic of)
  • Mehran Piran
    Bioinformatics and computational Biology Research center, Shiraz university of Medical Sciences, Shiraz, Iran (the Islamic Republic of)
  • Saman Ghalamkari
    Persian Bayangene Research and Training Institute, Shiraz, Iran (the Islamic Republic of)
  • Carlo Rivolta
    Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
    Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom
  • Footnotes
    Commercial Relationships   Zeinab Ravesh, None; Arash Salmaninejad, None; Neda Sepahi, None; Atta Ur Rehman, None; Nicola Bedoni, None; Alireza Pasdar, None; Mathieu Quinodoz, None; Virginie Peter, None; Majid Mojarrad, None; Ali Ghanbari Asad, None; Mehran Piran, None; Saman Ghalamkari, None; Carlo Rivolta, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 2384. doi:
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      Zeinab Ravesh, Arash Salmaninejad, Neda Sepahi, Atta Ur Rehman, Nicola Bedoni, Alireza Pasdar, Mathieu Quinodoz, Virginie Gisèle Peter, Majid Mojarrad, Ali Ghanbari Asad, Mehran Piran, Saman Ghalamkari, Carlo Rivolta; Genetic Testing Identifies Known and Unknown Mutations in Iranian Families with Hereditary Retinal Diseases. Invest. Ophthalmol. Vis. Sci. 2020;61(7):2384.

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

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Abstract

Purpose :
To identify the genetic basis of hereditary retinal diseases in consanguineous Iranian families

Methods :
Thirty-five unrelated Iranian families from across the country segregating progressive loss of vision were recruited following detailed ophthalmic examination. Molecular genetic tests including whole exome sequencing and homozygosity mapping were performed on all the probands. Sanger sequencing of candidate mutations was performed in all family members. Variants were analyzed using various databases and bioinformatic software.

Results : We identified 33 genomic variants in 25 previously-reported genes linked to hereditary retinal dystrophies. These mutations included: nonsense mutations in IQCB1, PRPH2, CNNM4, RDH12, SPATA7, MERTK, and CEP128; missense mutations in WDR19, WFS1, CNGA3, BBS2, BBS9, ABCA4, NMNAT1, RDH12, TULP1, RPE65, USH2A, CRB1, and RGS9, as well as frameshift mutations in RP1, SLC4A11, USH1G, GUCY2D, ALMS1 and ABCA4. Of these, 20 (60.6%) were novel. All affected individuals were homozygous for these variants except one, who was a compound heterozygote, indicating a clear effect of consanguinity in the molecular etiology of the disease. Mutations in WDR19, NMNAT1, TULP1, CEP128 and RGS9 have not been previously reported in the Iranian population.

Conclusions :
Consanguineous marriages have been widely practiced as a social norm in Iran, leading to a high prevalence of autosomal recessive disorders, including retinal degenerations. To the best of our knowledge, this is one of the largest genetic studies of Iranian families with hereditary retinal diseases. Hopefully, these data will contribute to the development of more accurate molecular tools for the diagnosis of ocular conditions in this region of the world.

This is a 2020 ARVO Annual Meeting abstract.

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