June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
North Carolina macular dystrophy is caused by a novel duplication leading to an upregulation of PRDM13 transcription factor
Author Affiliations & Notes
  • Gael Manes
    Institute for neurosciences of Montpellier, INSERM, Montpellier, France
    University of Montpellier, Montpellier, France
  • Willy Joly
    Institute for neurosciences of Montpellier, INSERM, Montpellier, France
  • Thomas Guignard
    CHU Montpellier, Génétique médicale clinique, Montpellier, France
  • Béatrice Bocquet
    Institute for neurosciences of Montpellier, INSERM, Montpellier, France
  • Patrick Carroll
    Institute for neurosciences of Montpellier, INSERM, Montpellier, France
  • David Geneviève
    CHU Montpellier, Génétique médicale clinique, Montpellier, France
  • Bernard Puech
    CNRS FRE 2726, Laboratoire Neurosciences Fonctionnelles et Pathologies, Hospital Roger Salengro, Lille, France
  • Christian P Hamel
    Institute for neurosciences of Montpellier, INSERM, Montpellier, France
    CHU Montpellier, Génétique médicale clinique, Montpellier, France
  • Isabelle Meunier
    CHU Montpellier, Génétique médicale clinique, Montpellier, France
    Institute for neurosciences of Montpellier, INSERM, Montpellier, France
  • Footnotes
    Commercial Relationships   Gael Manes, None; Willy Joly, None; Thomas Guignard, None; Béatrice Bocquet, None; Patrick Carroll, None; David Geneviève, None; Bernard Puech, None; Christian Hamel, None; Isabelle Meunier, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 4510. doi:
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      Gael Manes, Willy Joly, Thomas Guignard, Béatrice Bocquet, Patrick Carroll, David Geneviève, Bernard Puech, Christian P Hamel, Isabelle Meunier; North Carolina macular dystrophy is caused by a novel duplication leading to an upregulation of PRDM13 transcription factor. Invest. Ophthalmol. Vis. Sci. 2017;58(8):4510.

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

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Abstract

Purpose : To determine the mutation in two families with autosomal dominant North Carolina macular dystrophy (NCMD).

Methods : Microsatellite markers for the MCDR1 locus on chromosome 6q14-q16.2 were used to genotype two large families with NCMD. Then, whole genome next-generation sequencing was performed for 11 members of the two families. The overexpression of CCNC and PRDM13 orthologues were tested specifically in the eye of Drosophila melanogaster.

Results : The same 98.4 kb novel tandem duplication was identified in the two families and confirmed using Sanger sequencing. The duplication contained two entire contiguous genes CCNC and PRDM13, and cosegregated with the disease phenotype. In Drosophila, overexpression of CCNC orthologue had no effect whereas the overexpression of PRDM13 orthologue strongly affected the eye-antennal disc development.

Conclusions : We identified a novel causative mutation, a tandem duplication, in two independent families with NCMD. The duplication encompasses two entire genes, CCNC and PRDM13. Overexpression of PRDM13 but not CCNC in Drosophila leads to an almost complete loss of the imaginal eye-antennal disc, suggesting that the upregulation of the transcription factor PRDM13 is the cause of NCMD.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.

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