Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene
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(1.College of Life Sciences, Langfang Normal University, Langfang 065000, Hebei Province, China;2.Key Laboratory for Corneal Tissue Engineering, College of Marine Life Sciences, Ocean University of China, Qingdao 266003, Shandong Province, China)

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Supported by National Natural Science Foundation of China (No. 81060081; 81241124 and 81360155); the Research to Prevent Blindness Challenge Grant to the Department of Ophthalmology at the University of Rochester.
Conflicts of Interest: Hu F, None;Zeng XY, None; Liu LL, None; Luo YL, None; Jiang YP, None; Wang H, None; Xie J, None; Hu CQ, None; Gan L, None; Huang L, None.
ACKNOWLEDGMENTS: We thank the members of Department of Ophthalmology in the First Affiliated Hospital of Gannan Medical University for sample collection and Dr. Feng Wang in Human Genome Sequencing Center of Baylor College of Medicine for helpful discussions and technical assistances.

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    Abstract:

    AIM: To make comprehensive molecular diagnosis for retinitis pigmentosa (RP) patients in a consanguineous Han Chinese family using next generation sequencing based Capture-NGS screen technology. METHODS: A five-generation Han Chinese family diagnosed as non-syndromic X-linked recessive RP (XLRP) was recruited, including four affected males, four obligate female carriers and eleven unaffected family members. Capture-NGS was performed using a custom designed capture panel covers 163 known retinal disease genes including 47 RP genes, followed by the validation of detected mutation using Sanger sequencing in all recruited family members. RESULTS: Capture-NGS in one affected 47-year-old male reveals a novel mutation, c.2417_2418insG:p.E806fs, in exon ORF15 of RP GTPase regulator (RPGR) gene results in a frameshift change that results in a premature stop codon and a truncated protein product. The mutation was further validated in three of four affected males and two of four female carriers but not in the other unaffected family members. CONCLUSION: We have identified a novel mutation, c.2417_2418insG:p.E806fs, in a Han Chinese family with XLRP. Our findings expand the mutation spectrum of RPGR and the phenotypic spectrum of XLRP in Han Chinese families, and confirms Capture-NGS could be an effective and economic approach for the comprehensive molecular diagnosis of RP.

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Fang Hu, Xiang-Yun Zeng, Lin-Lin Liu, et al. Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene. Int J Ophthalmol, 2014,7(5):753-758

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Publication History
  • Received:February 25,2014
  • Revised:June 10,2014
  • Adopted:June 10,2014
  • Online: October 20,2014
  • Published: