{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T23:26:02Z","timestamp":1791501962906,"version":"4.3.4"},"reference-count":39,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,2,26]],"date-time":"2020-02-26T00:00:00Z","timestamp":1582675200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2020,2,26]],"date-time":"2020-02-26T00:00:00Z","timestamp":1582675200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100007765","name":"Shenyang Municipal Bureau of Science and Technology","doi-asserted-by":"publisher","award":["No.17\u2010600\u20109\u201000"],"award-info":[{"award-number":["No.17\u2010600\u20109\u201000"]}],"id":[{"id":"10.13039\/501100007765","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Panel\u2010based targeted exome sequencing was used to analyze the genetic and clinical findings of targeted genes in a cohort of northeast Chinese with retinitis pigmentosa.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A total of 87 subjects, comprising 23 probands and their family members (total patients: 32) with confirmed retinitis pigmentosa were recruited in the study. Panel\u2010based targeted exome sequencing was used to sequence the patients and family members, all subjects with retinitis pigmentosa underwent a complete ophthalmologic examination.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of the 23 probands, the clinical manifestations include night blindness, narrowing of vision, secondary cataracts, choroidal atrophy, color blindness, and high myopia, the average age of onset of night blindness is 12.9\u00a0\u00b1\u00a014 (range, 0\u201365; median, 8). Posterior subcapsular opacities is the most common forms of secondary cataracts (nine cases, 39.1%), and peripheral choroidal atrophy is the most common form of secondary choroidal atrophy (12 cases, 52.2%). Of these probands with complication peripheral choroidal atrophy, there were eight probands (66.7%, 8\/12) caused by the pathogenic variation in\n                      <jats:italic>USH2A<\/jats:italic>\n                      gene. A total of 17 genes and 45 variants were detected in 23 probands. Among these genes, the commonest genes were\n                      <jats:italic>USH2A<\/jats:italic>\n                      (40%; 18\/45),\n                      <jats:italic>RP1<\/jats:italic>\n                      (15.6%; 7\/45), and\n                      <jats:italic>EYS<\/jats:italic>\n                      (8.9%; 4\/45), and the top three genes account for 56.5% (13\/23) of diagnostic probands. Among these variants, comprising 22 (48.9%) pathogenic variants, 14 (31%) likely pathogenic variants, and nine (20%) uncertain clinical significance variants, and 22 variants was discovered first time. Most of the mutations associated with RP were missense (53.3%, 24\/45), and the remaining mutation types include frameshift (35.6%, 16\/45), nonsense (6.7%, 3\/45), and spliceSite (4.4%, 2\/45). Among the probands with mutations detected, compound heterozygous forms was detected in 13 (56.5%, 13\/23) probands, and digenic inheritance (DI) forms was detected in five (21.7%, 5\/23) probands.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Panel\u2010based targeted exome sequencing revealed 23 novel mutations, recognized different combinations forms of variants, and extended the mutational spectrum of retinitis pigmentosa and depicted common variants in northeast China.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1184","type":"journal-article","created":{"date-parts":[[2020,2,26]],"date-time":"2020-02-26T07:40:50Z","timestamp":1582702850000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Genetic and clinical findings of panel\u2010based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa"],"prefix":"10.1002","volume":"8","author":[{"given":"Yan","family":"Sun","sequence":"first","affiliation":[{"name":"Shenyang He Eye Specialist Hospital Shenyang China"},{"name":"He University Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Li","sequence":"additional","affiliation":[{"name":"He University Shenyang China"},{"name":"BGI Education Center University of Chinese Academy of Sciences Shenzhen China"},{"name":"BGI\u2010Shenzhen Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian\u2010kang","family":"Li","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen Shenzhen China"},{"name":"Department of Computer Science City University of Hong Kong Kowloon Hong Kong"},{"name":"Guangdong Provincial Key Laboratory of Human Disease Genomics Shenzhen Key Laboratory of Genomics BGI-Shenzhen Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuo\u2010shi","family":"Wang","sequence":"additional","affiliation":[{"name":"Shenyang He Eye Specialist Hospital Shenyang China"},{"name":"He University Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin\u2010yue","family":"Bai","sequence":"additional","affiliation":[{"name":"School of Basic Medicine Qingdao University Qingdao China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Xu","sequence":"additional","affiliation":[{"name":"Shenyang He Eye Specialist Hospital Shenyang China"},{"name":"He University Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo","family":"Xing","sequence":"additional","affiliation":[{"name":"School of Basic Medicine Qingdao University Qingdao China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Yang","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen Shenzhen China"},{"name":"Department of Computer Science City University of Hong Kong Kowloon Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zi\u2010wei","family":"Wang","sequence":"additional","affiliation":[{"name":"BGI Education Center University of Chinese Academy of Sciences Shenzhen China"},{"name":"BGI\u2010Shenzhen Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu\u2010sheng","family":"Wang","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen Shenzhen China"},{"name":"Department of Computer Science City University of Hong Kong Kowloon Hong Kong"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"He","sequence":"additional","affiliation":[{"name":"Shenyang He Eye Specialist Hospital Shenyang China"},{"name":"He University Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fang","family":"Chen","sequence":"additional","affiliation":[{"name":"BGI\u2010Shenzhen Shenzhen China"},{"name":"Guangdong Provincial Key Laboratory of Human Disease Genomics Shenzhen Key Laboratory of Genomics BGI-Shenzhen Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,2,26]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.16-20148"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20107\u20108"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm155"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.11.2121"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1152\/physiolgenomics.00101.2016"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep08927"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0065574"},{"key":"e_1_2_9_9_1","first-page":"2067","article-title":"Identification of five novel mutations in the long isoform of the ush2a gene in Chinese families with usher syndrome type ii","volume":"14","author":"Dai H.","year":"2008","journal-title":"Molecular Vision"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12203"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102016\u2010103837"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.2174\/138920211795860071"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2019.04.038"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol\u20102019\u2010314679"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140\u20106736(06)69740\u20107"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00773"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0063832"},{"key":"e_1_2_9_18_1","first-page":"553","article-title":"Detecting genetic variations in hereditary retinal dystrophies with next\u2010generation sequencing technology","volume":"20","author":"Jin X.","year":"2014","journal-title":"Molecular Vision"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms4517"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.15-17473"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024281"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.283"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.948"},{"issue":"1","key":"e_1_2_9_24_1","first-page":"22","article-title":"Identification and subcellular localization of the rp1 protein in human and mouse photoreceptors","volume":"43","author":"Liu Q.","year":"2002","journal-title":"Investigative Ophthalmology & Visual Science"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41433-018-0130-3"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2014.10.033"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.127"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep19531"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/10305"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.10.014"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth1156"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2018.03.008"},{"key":"e_1_2_9_34_1","first-page":"1717","article-title":"Myo7a and ush2a gene sequence variants in Italian patients with usher syndrome","volume":"20","author":"Sodi A.","year":"2014","journal-title":"Molecular Vision"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1517\/14728220903225016"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14\u201014936"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.5301\/ejo.5000971"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1177\/112067210601600614"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010014\u20101460\u20102"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep19759"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.1184","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1184","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1184","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1184","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,8]],"date-time":"2026-06-08T10:21:26Z","timestamp":1780914086000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1184"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,26]]},"references-count":39,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2020,4]]}},"alternative-id":["10.1002\/mgg3.1184"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1184","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,26]]},"assertion":[{"value":"2019-12-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-31","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-02-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1184"}}