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Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa gtpase regulator gene

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International Journal of Ophthalmology(English edition) 2014年第5期7卷 753-758页

作者： Fang Hu Xiang-Yun Zeng Lin-Lin Liu Yao-Ling Luo Yi-Ping Jiang Hui Wang Jing Xie Cheng-Quan Hu Lin Gan Liang Huang Department of Ophthalmology the First Affiliated HospitalGannan Medical University Flaum Eye Institute and Department of Ophthalmology School of Medicine and DentistryUniversity of Rochester

AIMTo make comprehensive molecular diagnosis for retinitis pigmentosa (RP) patients in a consanguineous Han Chinese family using next generation sequencing based Capture-NGS screen technology.

关键词： retinitis pigmentosa gtpase regulator retinitis pigmentosa next-generation sequencing genetic diagnosis

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Myopia with X-linked retinitis pigmentosa results from a novel gross deletion of RPGR gene

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International Journal of Ophthalmology(English edition) 2020年第8期13卷 1306-1311页

作者： Hui-Ping Li Shi-Qin Yuan Xiao-Guang Wang Xun-Lun Sheng Xiao-Rong Li Tianjin Medical University Eye Hospital Tianjin Key Laboratory of Retinal Functions and DiseasesEye Institute and School of OptometryTianjin 300384China Department of Ophthalmology Ningxia Eye HospitalPeople’s Hospital of Ningxia Hui Autonomous RegionFirst Affiliated Hospital of Northwest University for NationalitiesNingxia Clinical Research Center on Diseases of Blindness in EyeYinchuan 750002Ningxia Hui Autonomous RegionChina

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 Sure Select Human All Exon 6+ UTR exon capture kit. The exons were sequenced as 100 base paired reads on Illumina HiS eq2500 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 ***: We analysed the data of WES information from XLRP family. The analysis revealed a hemizygous large genomic deletion of RPGR c.29113 del was responsible for this XLRP. The gross deletion lead to a frame-shift mutation and generate stop codon at 7 animo acid behind Asp(D10 Afs*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 ***: 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.

关键词： retinitis pigmentosa myopia retinitis pigmentosa gtpase regulator whole exome sequencing

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