In vivo consequences of varying degrees of OTOA alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing  

作　　者：Ju Ang Kim Bong Jik Kim Chung Lee Go Hun Seo Hane Lee Jin Hee Han Ava Niazi Joosang Park Byung Yoon Choi Sungjin Park 

机构地区：[1]Department of Neurobiology,University of Utah,Salt Lake City,UT 84112,USA [2]Department of Otorhinolaryngology,Chungnam National University College of Medicine,Chungnam National University Sejong Hospital,Sejong 30099,South Korea [3]Brain Research Institute,Chungnam National University College of Medicine,Daejeon 35015,South Korea [4]Department of Pathology,Severance Hospital,Yonsei University College of Medicine,Seoul 03722,South Korea [5]billion,Inc.,Seoul 06193,South Korea [6]Department of OtorhinolaryngologyeHead and Neck Surgery,Seoul National University Bundang Hospital,Seoul National University College of Medicine,Seongnam 13620,South Korea

出　　处：《Genes & Diseases》2025年第3期88-92,共5页基因与疾病(英文)

基　　金：supported by the National Research Foundation of Korea(NRF)grant funded by the Korean government(MSIT)(No.2021R1C1C1007980 to B.J.K.);Chungnam National University Sejong Hospital Research Fund,2022,and Chungnam National University(to B.J.K.);supported by the Basic Science Research Program through the NRF,funded by the Ministry of Education(No.2021R1A2C2092038 to B.Y.C.);Bio Core Facility Center program(No.NRF-2022M3A9G1014007 to B.Y.C.);the Basic Research Laboratory program through the NRF,funded by the Ministry of Education(No.RS-2023-0021971031482092640001 to B.Y.C.);the Technology Innovation Program(No.K_G012002572001 to B.Y.C.)funded By the Ministry of Trade,Industry&Energy(MOTIE,Korea);funded by SNUBH(Seoul National University Bundang Hospital)intramural research fund(No.13-2022-0010,02-2017-0060,16-2023-0002,13-2023-0002,16-2022-0005,13-2024-0004,and 13-2017-0013 to B.Y.C.);supported by the National Institute on Deafness and Other Communication Disorders(NIDCD);part of the US National Institutes of Health(No.R01DC018814 to S.P.).

摘　　要：Otoancorin(OTOA)is a glycosylphosphatidylinositol(GPI)-anchored protein mediating the attachment of the tectorial membrane(TM)to the spiral limbus(SL)in the inner ear.Homozygous or compound heterozygous mutations in OTOA cause autosomal recessive deafness(DFNB22).We performed short-read exome sequencing(SRS)in a 10-monthold boy with sensorineural hearing loss,identifying a potential p.Glu787*variant in OTOA.Interestingly,this variant is common among normal-hearing individuals,leading us to question its pathogenic potential.

关 键 词：vivo consequences glycosylphosphatidylinositol anchored protein autosomal recessive deafness dfnb we tectorial membrane tectorial membrane tm pseudogene contamination free long read sequencing knock mouse models sensorineural hearing lossidentifying 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]