June 2013
Volume 54, Issue 15
Free
ARVO Annual Meeting Abstract  |   June 2013
SNRNP200 Mutations Account for 2% of Autosomal Dominant Retinitis Pigmentosa
Author Affiliations & Notes
  • Lori Sullivan
    Human Genetics Center SPH, Univ Texas Hlth Sci Ctr Houston, Houston, TX
  • Sara Bowne
    Human Genetics Center SPH, Univ Texas Hlth Sci Ctr Houston, Houston, TX
  • Cheryl Avery
    Human Genetics Center SPH, Univ Texas Hlth Sci Ctr Houston, Houston, TX
  • Dianna Wheaton
    Retina Foundation of the Southwest, Dallas, TX
  • David Birch
    Retina Foundation of the Southwest, Dallas, TX
  • Kari Branham
    Kellogg Eye Center, University of Michigan, Ann Arbor, MI
  • John Heckenlively
    Kellogg Eye Center, University of Michigan, Ann Arbor, MI
  • Stephen Daiger
    Human Genetics Center SPH, Univ Texas Hlth Sci Ctr Houston, Houston, TX
  • Footnotes
    Commercial Relationships Lori Sullivan, None; Sara Bowne, None; Cheryl Avery, None; Dianna Wheaton, None; David Birch, Acucela (C), QLT (C), Neurotech, USA (C); Kari Branham, Arctic DX (P); John Heckenlively, None; Stephen Daiger, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science June 2013, Vol.54, 1329. doi:
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      Lori Sullivan, Sara Bowne, Cheryl Avery, Dianna Wheaton, David Birch, Kari Branham, John Heckenlively, Stephen Daiger; SNRNP200 Mutations Account for 2% of Autosomal Dominant Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1329.

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

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Abstract

Purpose: Mutations in the pre-mRNA splicing gene SNRNP200 have been identified as a cause of autosomal dominant retinitis pigmentosa (adRP). In order to determine the prevalence of SNRNP200 mutations, a cohort of well characterized adRP patients was screened.

Methods: A cohort of 258 probands has been systematically screened for mutations in the genes currently known to cause adRP. Of these 258 individuals, mutations have been identified in 185, leaving a set of 73 with no known disease-causing mutation. All 45 exons of SNRNP200 were screened by fluorescent di-deoxy sequencing in this subset of the adRP cohort. Identified variants were tested for segregation in additional family members when available.

Results: In the set of 73 adRP patients screened, six were found to have missense mutations in SNRNP200. Three families have a previously identified change (Arg681His) while the other three were found to have novel variants (Ala542Val, Pro682Ser, Gly1162Glu). The Ala542Val mutation was found in two additional affected family members. All three novel variants are predicted to be pathogenic and are not found in databases of normal controls.

Conclusions: A comprehensive screen of the SNRNP200 gene has identified likely disease-causing mutations in 6 of 73 individuals tested. The overall prevalence of SNRNP200 mutations in our adRP cohort is 2.3% (6/258). This further confirms the role of proteins in the U4/U6-U5 tri-snRNP splice complex, including PRPF3, PRPF8, PRPF31 and SNRNP200, in adRP.

Keywords: 696 retinal degenerations: hereditary • 537 gene screening • 604 mutations  
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