September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Next generation sequencing-based comprehensive molecular diagnosis of retinitis pigmentosa probands in Miami
Author Affiliations & Notes
  • Jennifer Verriotto
    Bascom Palmer Eye Institute, University of Miami, Miami, Florida, United States
  • Qi Zhang
    College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China
  • Mingchu Xu
    Human Genome Sequencing Center, Baylor College of Medicine, , Houston, Texas, United States
  • Yumei Li
    Human Genome Sequencing Center, Baylor College of Medicine, , Houston, Texas, United States
  • Hui Wang
    College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China
  • Lin Gan
    College of Life Sciences, Zhejiang University, Hangzhou, Zhejiang, China
  • Rui Chen
    Human Genome Sequencing Center, Baylor College of Medicine, , Houston, Texas, United States
  • Byron L Lam
    Bascom Palmer Eye Institute, University of Miami, Miami, Florida, United States
  • Footnotes
    Commercial Relationships   Jennifer Verriotto, None; Qi Zhang, None; Mingchu Xu, None; Yumei Li, None; Hui Wang, None; Lin Gan, None; Rui Chen, None; Byron Lam, None
  • Footnotes
    Support  This work is supported by the National Eye Institute [R01EY022356, R01EY018571, vision core grant P30EY002520], the Retina Research Foundation, the Foundation Fighting Blindness [grant number BR-GE-0613-0618-BCM] to R.C. B.L and J.V. are supported by Department of Defense grant W81XWH-09-1-0674, NEI core grant P30-EY14801, Adrienne Arsht Hope for Vision Retinal Degeneration fund, and Research to Prevent Blindness. Q.Z. and L.G. are supported by Zhejiang Province Science Grant No. 2012C13023-1. This work is supported by grant from the National Natural Science Foundation of China to H.W. (31471196).
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 129. doi:
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to Subscribers Only
      Sign In or Create an Account ×
    • Get Citation

      Jennifer Verriotto, Qi Zhang, Mingchu Xu, Yumei Li, Hui Wang, Lin Gan, Rui Chen, Byron L Lam; Next generation sequencing-based comprehensive molecular diagnosis of retinitis pigmentosa probands in Miami. Invest. Ophthalmol. Vis. Sci. 2016;57(12):129.

      Download citation file:


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

      ×
  • Supplements
Abstract

Purpose : Retinitis pigmentosa (RP) is a group of heterogeneous inherited retinal diseases, and the prevalence of RP and frequency of RP genotypes vary across populations. To examine if the mutation spectrum is distinct for patients with RP in the Miami area where a significant portion of the population is Hispanic, we performed targeted next-generation sequencing (NGS) for a cohort of unrelated RP cases recruited from the area.

Methods : Comprehensive molecular screening was performed using NGS approach targeting a panel of 186 known retinal human disease genes. Putative pathogenic mutations were identified and validated by Sanger sequencing. Segregation testing was conducted when additional family members are available.

Results : A total of 71 unrelated RP families were recruited, including 37 Hispanic families. Putative mutations (35 novel pathogenic mutations) were identified in 46 families, achieving a solving rate of 65%. In 9 families, the PRPF31 was mutant, making it the most commonly genotype. Mutations in other retinal disease genes (IMPG1, CDHR1) were observed in 2 families, providing potential new phenotype-genotype RP links.

Conclusions : To our knowledge, this was the first NGS comprehensive mutation screen for RP patients from the Miami area where a significant portion of the population is Hispanic. Distinct mutation spectrum has been observed with PRPF31 as the most common geneotype. A novel PRPF31 mutation was shared by three Cuba families, indicating a founder effect. Our results verified the genotype differences in populations and underscored the importance of a comprehensive, unbiased approach in clinical molecular diagnosis.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×