title: Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital, Gannan Medical University, Ganzhou 341000, Jiangxi Province, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Hu
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital, Gannan Medical University, Ganzhou 341000, Jiangxi Province, China.
authors.forename: Xiang-Yun
authors.initials: XY
authors.lastname: Zeng
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital, Gannan Medical University, Ganzhou 341000, Jiangxi Province, China.
authors.forename: Lin-Lin
authors.initials: LL
authors.lastname: Liu
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital, Gannan Medical University, Ganzhou 341000, Jiangxi Province, China.
authors.forename: Yao-Ling
authors.initials: YL
authors.lastname: Luo
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital, Gannan Medical University, Ganzhou 341000, Jiangxi Province, China.
authors.forename: Yi-Ping
authors.initials: YP
authors.lastname: Jiang
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital, Gannan Medical University, Ganzhou 341000, Jiangxi Province, China.
authors.forename: Hui
authors.initials: H
authors.lastname: Wang
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital, Gannan Medical University, Ganzhou 341000, Jiangxi Province, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Xie
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital, Gannan Medical University, Ganzhou 341000, Jiangxi Province, China.
authors.forename: Cheng-Quan
authors.initials: CQ
authors.lastname: Hu
authors.affiliation: Flaum Eye Institute and Department of Ophthalmology, School of Medicine and Dentistry, University of Rochester, New York 14642, USA.
authors.forename: Lin
authors.initials: L
authors.lastname: Gan
authors.affiliation: Department of Ophthalmology, the First Affiliated Hospital, Gannan Medical University, Ganzhou 341000, Jiangxi Province, China ; Flaum Eye Institute and Department of Ophthalmology, School of Medicine and Dentistry, University of Rochester, New York 14642, USA.
authors.forename: Liang
authors.initials: L
authors.lastname: Huang
keywords: genetic diagnosis; next-generation sequencing; retinitis pigmentosa; retinitis pigmentosa GTPase regulator