July 2018
Volume 59, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2018
40 Retinitis Pigmented Families-Study on Pathogenic Mutagenesis and Molecular Diagnosis Based on Target Capture Next Generation Sequencing Technology
Author Affiliations & Notes
  • Xinxin Zhang
    China Medical University, ShenYang, China
  • wei sun
    China Medical University, ShenYang, China
  • Na Yang
    China Medical University, ShenYang, China
  • Tingyu Yan
    China Medical University, ShenYang, China
  • Xuedong Li
    China Medical University, ShenYang, China
  • Jingjing Liu
    China Medical University, ShenYang, China
  • Fei Liu
    China Medical University, ShenYang, China
  • Yupu Liu
    China Medical University, ShenYang, China
  • Xiaochen Wang
    China Medical University, ShenYang, China
  • Hehe Liu
    China Medical University, ShenYang, China
  • Youjin Wang
    China Medical University, ShenYang, China
  • Yuxi Ding
    China Medical University, ShenYang, China
  • Ran Wei
    China Medical University, ShenYang, China
  • Ran Wang
    China Medical University, ShenYang, China
  • Jun Kong
    China Medical University, ShenYang, China
  • Footnotes
    Commercial Relationships   Xinxin Zhang, None; wei sun, None; Na Yang, None; Tingyu Yan, None; Xuedong Li, None; Jingjing Liu, None; Fei Liu, None; Yupu Liu, None; Xiaochen Wang, None; Hehe Liu, None; Youjin Wang, None; Yuxi Ding, None; Ran Wei, None; Ran Wang, None; Jun Kong, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science July 2018, Vol.59, 5396. doi:
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      Xinxin Zhang, wei sun, Na Yang, Tingyu Yan, Xuedong Li, Jingjing Liu, Fei Liu, Yupu Liu, Xiaochen Wang, Hehe Liu, Youjin Wang, Yuxi Ding, Ran Wei, Ran Wang, Jun Kong; 40 Retinitis Pigmented Families-Study on Pathogenic Mutagenesis and Molecular Diagnosis Based on Target Capture Next Generation Sequencing Technology. Invest. Ophthalmol. Vis. Sci. 2018;59(9):5396.

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

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Abstract

Purpose : Retinitis pigmentosa (RP) is a progressive, hereditary, and malnutritional degenerative disease with a prevalence of about 1 in 3000-5000. RP has a high degree of genetic heterogeneity, diverse and non-specific clinical features, which is difficult to identify the type of disease and the pathogenesis of the disease only by the clinical manifestations. Recently, the development of target capture-next generation sequencing(NGS) technology has been favored with its high throughput, wide scale and low cost, and the purpose of our study was to detect pathogenic mutations of RP by the technology.

Methods : The target capture-NGS technology was used to detect pathogenic mutations in 40 RP families for 1651 gene of ophthalmic inherited disease (including 261 gene related with retinal disease and 63 gene related with RP) and analyzed the relationship between phenotypes and genotypes. Sanger sequencing was used to validate the candidate pathogenic mutations which were validated in families, respectively.

Results : A detection rate of 60.7% was achieved including mutations in 63 known gene causing RP. A total of 46 distinct mutations were identified, including 22 novel mutations. We found the USH2A(32%), RHO(6%), BBS1(4%),and PRPF8(4%), RPGR(4%),CYP4V2(4%),PDE6B(4%) were high frequency of mutations in Chinese retinal pigmentosa disease. We also identified three de novo mutation in RHO, PRPH8, FSCN2 in 3 RP cases.

Conclusions : The target capture-NGS technology can improve the detection rate of pathogenic genes in RP patients and provide important technical means for further exploration of the molecular genetic etiology and pathogenic mechanism of RP. Our results could enrich the mutation spectrum and gene prevalence for RP and provide the theoretical basis of clinical molecular diagnosis.

This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.

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