June 2017
Volume 58, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2017
North Carolina macular dystrophy: mutations found in 12 additional families
Author Affiliations & Notes
  • Kent W Small
    Macula and Retina Institute, Glendale, California, United States
    Retina, Molecular Insight, Research Foundation, Los Angeles, California, United States
  • Fadi Shaya
    Macula and Retina Institute, Glendale, California, United States
    Retina, Molecular Insight, Research Foundation, Los Angeles, California, United States
  • Svetlana Yelchits
    Jules Stein Eye Institute, Los Angeles, California, United States
  • Adam P DeLuca
    University of Iowa, Iowa City, Iowa, United States
  • Richard Alan Lewis
    Baylor College of Medicine, Houston, Texas, United States
  • Monique J Leys
    WVU Eye Institute, Morgantown, West Virginia, United States
  • Nitin Udar
    Macula and Retina Institute, Glendale, California, United States
    Retina, Molecular Insight, Research Foundation, Los Angeles, California, United States
  • Benjamin Bakall
    University of Arizona College of Medicine, Phoenix, Arizona, United States
  • Klaus Rohrschneider
    University of Heidelberg, Heidelberg, Germany
  • Bernard Puech
    Service d’Exploration de la vision et Neuro-ophtalmologie CHRU, Lille, France
  • Virginie Puech
    Ophthalmologist in Marcq-en-Barœul, Marcq-en-Barœul, France
  • Elise Heon
    Hospital for Sick Children, Toronto, Ontario, Canada
  • James C Folk
    University of Iowa Hospitals & Clinics, Iowa City, Iowa, United States
  • Gerald A Fishman
    Chicago Lthouse for the Blind & Vis Impaired, Chicago, Illinois, United States
  • Christine Garabetian
    Macula and Retina Institute, Glendale, California, United States
    Retina, Molecular Insight, Research Foundation, Los Angeles, California, United States
  • Edwin M Stone
    University of Iowa, Iowa City, Iowa, United States
  • Footnotes
    Commercial Relationships   Kent Small, None; Fadi Shaya, None; Svetlana Yelchits, None; Adam DeLuca, None; Richard Lewis, None; Monique Leys, None; Nitin Udar, None; Benjamin Bakall, None; Klaus Rohrschneider, None; Bernard Puech, None; Virginie Puech, None; Elise Heon, None; James Folk, None; Gerald Fishman, None; Christine Garabetian, None; Edwin Stone, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science June 2017, Vol.58, 2779. doi:
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      Kent W Small, Fadi Shaya, Svetlana Yelchits, Adam P DeLuca, Richard Alan Lewis, Monique J Leys, Nitin Udar, Benjamin Bakall, Klaus Rohrschneider, Bernard Puech, Virginie Puech, Elise Heon, James C Folk, Gerald A Fishman, Christine Garabetian, Edwin M Stone; North Carolina macular dystrophy: mutations found in 12 additional families. Invest. Ophthalmol. Vis. Sci. 2017;58(8):2779.

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

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Abstract

Purpose : Small and co-workers (Ophthalmology, 2016) recently showed that mutations affecting the expression of PRDM13 cause North Carolina macular dystrophy (NCMD / MCDR1). The purpose of this study was to investigate the PRDM locus in 12 additional families with this phenotype and to identify mutations causing North Carolina macular dystrophy (NCMD, MCDR1) in these families.

Methods : 18 new families with the NCMD phenotype (a total of 46 affected individuals) were studied using a combination of Sanger sequencing of the DNase I hypersensitivity site upstream of PRDM13 and PCR-based assay for the detection of a previously described duplication of the PRDM13 gene. IRB approval was obtained and informed consent was obtained from all participants.

Results : The original NCMD publication reported four different mutations (V1-V4) distributed among eleven different kindreds. To date, we have identified the disease-causing mutations in 12 new independent families with the NCMD phenotype. Seven of these harbor the previously described V1 mutation (all from the USA) and five families harbor the previously described V2 mutation (4 European, 1 USA). These two variants segregated perfectly in the 36 affected and 10 unaffected members of these 12 new NCMD families. No mutations have yet been identified in the other six families. We have an additional 6 families yet to be studied.

Conclusions : We identified 12 new families with disease-causing mutations in the DNase I hypersensitivity site upstream of the PRDM13 gene.
Additional families with the NCMD phenotype continue to support that these mutations are causative of MCDR1 / 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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