June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
A 353-bp Alu insertion in MAK is a prevalent cause of recessive retinitis pigmentosa in North American Jewish patients
Author Affiliations & Notes
  • Carlo Rivolta
    Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
  • Giulia Venturini
    Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
  • Shyana Harper
    Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA
  • Hanna Koskiniemi
    Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
  • Eliot Berson
    Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA
  • Footnotes
    Commercial Relationships Carlo Rivolta, None; Giulia Venturini, None; Shyana Harper, None; Hanna Koskiniemi, None; Eliot Berson, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 1315. doi:
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      Carlo Rivolta, Giulia Venturini, Shyana Harper, Hanna Koskiniemi, Eliot Berson; A 353-bp Alu insertion in MAK is a prevalent cause of recessive retinitis pigmentosa in North American Jewish patients. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1315.

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Abstract

Purpose: A 353-bp Alu insertion in exon nine of male germ cell-associated kinase (MAK) gene was previously shown to be a cause of autosomal recessive retinitis pigmentosa (arRP), with a prevalence of 1.2% within a large cohort of unrelated patients. All of the carriers of the homozygous insertion were of Jewish ancestry. Our aim was to ascertain the prevalence of this mutation in a group of North American patients with arRP and of Jewish ancestry, compared with a cohort of patients of mixed ethnicity.

Methods: Patient sets included 82 unrelated individuals with arRP and of Jewish ancestry, assessed from a questionnaire, and a group of 190 arRP patients of mixed ethnicity (mostly Caucasians). DNA from peripheral leukocytes was extracted and used as template for PCR amplifications. PCR produces were then analyzed by agarose gel electrophoresis and Sanger sequencing.

Results: The homozygous Alu-element insertion in exon nine of MAK was identified in 9 out of 82 patients (~11%) of Jewish ancestry and in 4 out of 190 patients (~2%) of mixed ethnicity. These 4 latter positive individuals reported generic East European origin.

Conclusions: Our data indicate that a single mutation in the MAK gene is responsible for arRP in a large fraction of North American Jewish patients, while being a relatively rare occurrence in other Caucasians individuals with the same disease.

Keywords: 696 retinal degenerations: hereditary  
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