A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism 英文参考文献.docVIP

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A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism 英文参考文献.doc

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A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism 英文参考文献

ANovelNonsenseMutationoftheGPR143Gene IdentifiedinaChinesePedigreewithOcularAlbinism NaihongYan1.,XuanLiao1,2.,Su-pingCai3.,ChangjunLan2,YunWang1,XiaominZhou1,YanYin1, WenhanYu1,XuyangLiu3* 1State Key Laboratory of Biotherapy, Ophthalmic Laboratories, Department of Ophthalmology, Translational Neuroscience Center, West China Hospital, Sichuan University,Chengdu,People’sRepublicofChina,2DepartmentofOphthalmology,NorthSichuanMedicalCollege,Nanchong,People’sRepublicofChina,3ShenzhenEye Hospital,JinanUniversity,Shenzhen,People’sRepublicofChina Abstract Background:ThepurposeofthisstudywastoelucidatethemolecularbasisofocularalbinismtypeIinaChinesepedigree. Methodology/PrincipalFindings:Completeophthalmologicexaminationswereperformedon4patients,7carriersand17 unaffectedindividualsinthisfive-generationfamily.Allcodingexonsoffour-point-one(4.1),ezrin,radixin,moesin(FERM) domain-containing 7 (FRMD7) and G protein-coupled receptor 143 (GPR143) genes were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database. Ocular albinism and nystagmus were found in all patientsofthisfamily.Macularhypoplasiawaspresentinthepatientsincludingtheproband.Anovelnonsensehemizygous mutationc.807T.AintheGPR143genewasidentifiedinfourpatientsandtheheterozygousmutationwasfoundinseven asymptomaticindividuals.Thismutationisasubstitutionoftyrosineforadeninewhichleadstoaprematurestopcodonat position269(p.Y269X)ofGPR143. Conclusions/Significance:Thisisthefirstreportthatp.Y269XmutationofGPR143geneisresponsibleforthepathogenesis of familial ocular albinism. These results expand the mutation spectrum of GPR143, and demonstrate the clinical characteristicsofocularalbinismtypeIinChinesepopulation. Citation: Yan N, Liao X, Cai S-p, Lan C, Wang Y, et al. (2012) A Novel Nonsense Mutation of the GPR143 Gene Identified in a Chinese Pedigree with Ocular Albinism.PLoSONE7(8):e43177.doi:10.1371/journal.pone.0043177 Editor:AndreasR.Janecke,InnsbruckMedicalUniversity,Austria Recei