Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene
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Xiao-Rong Li. Tianjin Medical University Eye Hospital, Tianjin Key Laboratory of Retinal Functions and Diseases, Eye Institute and School of Optometry, Tianjin 300384, China. xiaorli@163.com; Xun-Lun Sheng. Department of Ophthalmology, Ningxia Eye Hospital, People’s Hospital of Ningxia Hui Autonomous Region, First Affiliated Hospital of Northwest University for Nationalities, Ningxia Clinical Research Center on Diseases of Blindness in Eye, Yinchuan 750002, Ningxia Hui Autonomous Region, China. shengxunlun@163.com

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Supported by National Nature Science Foundation of China (No.81760180); Key Research and Development of Ningxia (No.2017BY086); Nature Science Foundation of Ningxia (No.2019AAC03160); Key Research and Development Program of Ningxia (No.2018BEG03051).

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    Abstract:

    AIM: To identify mutations with whole exome sequencing (WES) in a Chinese X-linked retinitis pigmentosa (XLRP) family. METHODS: Patients received the comprehensive ophthalmic evaluation. Genomic DNA was extracted from peripheral blood and subjected to SureSelect Human All Exon 6+ UTR exon capture kit. The exons were sequenced as 100 base paired reads on Illumina HiSeq2500 system. Only mutations that resulted in a change in amino acid sequence were selected. A pattern of inheritance of the RP family was aligned to identified causal mutation. RESULTS: We analysed the data of WES information from XLRP family. The analysis revealed a hemizygous large genomic deletion of RPGR c.29_113del was responsible for this XLRP. The gross deletion lead to a frame-shift mutation and generate stop codon at 7 animo acid behind Asp (D10Afs*7), which would serious truncate RPGR protein. The novel frame-shift mutation was found to segregate with retinitis pigmentosa (RP) phenotype in this family. Bilateral myopia was present on the male patients, but carrier female showed unilateral myopia without RP. CONCLUSION: Our study identifies a novel frame-shift mutation of RPGR in a Chinese family, which would expand the spectrum of RPGR mutations. The geno-phenotypic analysis reveals a correlation between RP and myopia. Although exact mechanism of RP related myopia is still unknown, but the novel frame-shift mutation will give our hit on studying the molecular pathogenesis of RP and myopia.

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Hui-Ping Li, Shi-Qin Yuan, Xiao-Guang Wang, et al. Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene. Int J Ophthalmol, 2020,13(8):1306-1311

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Publication History
  • Received:April 10,2020
  • Revised:June 29,2020
  • Adopted:
  • Online: June 22,2020
  • Published: