Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities 英文参考文献.docVIP

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Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities 英文参考文献.doc

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Exome Analysis Identified a Novel Mutation in the RBP4 Gene in a Consanguineous Pedigree with Retinal Dystrophy and Developmental Abnormalities 英文参考文献

ExomeAnalysisIdentifiedaNovelMutationintheRBP4 GeneinaConsanguineousPedigreewithRetinal DystrophyandDevelopmentalAbnormalities CatherineCukras1,TerryGaasterland2,PaulineLee3,HariniV.Gudiseva4,VenkataR.M.Chavali4, RaghuPullakhandam5,BrunoMaranhao4,LeeEdsall2,SandraSoares2,G.BhanuprakashReddy5, PaulA.Sieving1,6,RadhaAyyagari4* 1National Eye Institute, NIH, Bethesda, Maryland, United States of America, 2Scripps Institution of Oceanography and Institute of Genomic Medicine, University of California San Diego, LaJolla, California, United States of America, 3The Scripps Research Institute, La Jolla, California, United States of America, 4Shiley Eye Center, UniversityofCaliforniaSanDiego,LaJolla,California,UnitedStatesofAmerica,5NationalInstituteofNutrition,Hyderabad,AP,India,6NationalInstituteofDeafnessand CommunicationDisorders,NIH,Bethesda,Maryland,UnitedStatesofAmerica Abstract Retinitis Pigmentosa (RP) is a common form of retinal degeneration characterized by photoreceptor degeneration and retinal pigment epithelium (RPE) atrophy causing loss of visual field and acuities. Exome sequencing identified a novel homozygous splice site variant (c.111+1G.A) in the gene encoding retinol binding protein 4 (RBP4). This change segregatedwithearlyonset,progressive,andsevereautosomalrecessiveretinitispigmentosa(arRP)inaneightmember consanguineouspedigreeofEuropeanancestry.Additionally,onepatientexhibiteddevelopmentalabnormalitiesincluding patent ductus arteriosus and chorioretinal andiris colobomas. The second patient developed acnefrom young age and extendingintothe5thdecade.BothpatientshadundetectablelevelsofRBP4intheserumsuggestingthatthismutationled to either mRNA or protein instability resulting in a null phenotype. In addition, the patients exhibited severe vitamin A deficiency,anddiminishedserumretinollevels.Circulatingtransthyretinlevelswerenormal.ThisstudyidentifiestheRBP4 splicesite changeasthecauseof RPin thispedigree. Thepresence ofdevelopmental abnormalitiesandse