简介：AIM:Tomakecomprehensivemoleculardiagnosisforretinitispigmentosa（RP）patientsinaconsanguineousHanChinesefamilyusingnextgenerationsequencingbasedCapture-NGSscreentechnology.METHODS:Afive-generationHanChinesefamilydiagnosedasnon-syndromicX-linkedrecessiveRP（XLRP）wasrecruited,includingfouraffectedmales,fourobligatefemalecarriersandelevenunaffectedfamilymembers.Capture-NGSwasperformedusingacustomdesignedcapturepanelcovers163knownretinaldiseasegenesincluding47RPgenes,followedbythevalidationofdetectedmutationusingSangersequencinginallrecruitedfamilymembers.RESULTS:Capture-NGSinoneaffected47-year-oldmalerevealsanovelmutation,c.24172418insG:p.E806fs,inexonORF15ofRPGTPaseregulator（RPGR）generesultsinaframeshiftchangethatresultsinaprematurestopcodonandatruncatedproteinproduct.Themutationwasfurthervalidatedinthreeoffouraffectedmalesandtwooffourfemalecarriersbutnotintheotherunaffectedfamilymembers.CONCLUSION:Wehaveidentifiedanovelmutation,c.24172418insG:p.E806fs,inaHanChinesefamilywithXLRP.OurfindingsexpandthemutationspectrumofRPGRandthephenotypicspectrumofXLRPinHanChinesefamilies,andconfirmsCapture-NGScouldbeaneffectiveandeconomicapproachforthecomprehensivemoleculardiagnosisofRP.