Molecular Genetics Of A Retinitis Pigmentosa Pedigree With Two Inheritance Model

Purpose: This research was to characterize the clinical manifestations of a south Fujian' family with retinitis pigmentosa?RP?and to screen the pathogenic gene mutation by nextgeneration sequencing?NGS?based on sequence capture array.The study analyzed the relationship between genotype and phenotype of this family and helped our further understanding molecular genetics mechanism of RP.Methods: The family received clinical examinations for evaluation of ocular manifestations,including uncorrected visual acuity?UCVA?,best corrected visual acuity?BVCA?,color vision,intraocular pressure?IOP?,fundus photography,optical coherence tomography?OCT?,visual field,fundus fluorescein angiography?FFA?and electroretinogram?ERG?.Peripheral blood samples were collected and the DNA was extracted for pathogenic mutations identification by exome sequencing.Results: The patients in this family were diagnosed with retinitis pigmentosa.Results of gene sequencing revealed a point mutation?c.739C>T,p.Gln247Ter?in exon 7 of RPGR gene causing a nonsense mutation,and a novel deletion?c.2204₂208delAATCA,p.Lys735Argfs*16?in exon 13 of IMPG2 gene.Eventually the patients were diagnosed with RPGR-RP and IMPG2-RP,following X-linked and autosomal recessive patterns of inheritance,respectively.Conclusion: Our findings identified 2 mutations,including a mutation?RPGR c.739C>T?and a novel mutation?IMPG2 c.2204₂208delAATCA?associating with pathogenesis of RP in this Chinese family.