{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T19:06:55Z","timestamp":1769195215674,"version":"3.49.0"},"reference-count":27,"publisher":"Portland Press Ltd.","issue":"1","license":[{"start":{"date-parts":[[2020,1,6]],"date-time":"2020-01-06T00:00:00Z","timestamp":1578268800000},"content-version":"vor","delay-in-days":5,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,1,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Background: The USH2A gene encodes usherin, a basement membrane protein that is involved in the development and homeostasis of the inner ear and retina. Mutations in USH2A are linked to Usher syndrome type II (USH II) and non-syndromic retinitis pigmentosa (RP). Molecular diagnosis can provide insight into the pathogenesis of these diseases, facilitate clinical diagnosis, and identify individuals who can most benefit from gene or cell replacement therapy. Here, we report 21 pathogenic mutations in the USH2A gene identified in 11 Chinese families by using the targeted next-generation sequencing (NGS) technology.<\/jats:p>\n               <jats:p>Methods: In all, 11 unrelated Chinese families were enrolled, and NGS was performed to identify mutations in the USH2A gene. Variant analysis, Sanger validation, and segregation tests were utilized to validate the disease-causing mutations in these families.<\/jats:p>\n               <jats:p>Results: We identified 21 pathogenic mutations, of which 13, including 5 associated with non-syndromic RP and 8 with USH II, have not been previously reported. The novel variants segregated with disease phenotype in the affected families and were absent from the control subjects. In general, visual impairment and retinopathy were consistent between the USH II and non-syndromic RP patients with USH2A mutations.<\/jats:p>\n               <jats:p>Conclusions: These findings provide a basis for investigating genotype\u2013phenotype relationships in Chinese USH II and RP patients and for clarifying the pathophysiology and molecular mechanisms of the diseases associated with USH2A mutations.<\/jats:p>","DOI":"10.1042\/bsr20193536","type":"journal-article","created":{"date-parts":[[2020,1,21]],"date-time":"2020-01-21T10:00:04Z","timestamp":1579600804000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of 13 novel <i>USH2A<\/i> mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing"],"prefix":"10.1042","volume":"40","author":[{"given":"Ling-hui","family":"Qu","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, The 74th Army Group Hospital, Guangzhou 510318, China"},{"name":"Southwest Hospital\/Southwest Eye Hospital, Third Military Medical University, (Army Medical University), Chongqing 400038, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Jin","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, General Hospital of Chinese People\u2019s Liberation Army, Beijing 100853, China"},{"name":"Southwest Hospital\/Southwest Eye Hospital, Third Military Medical University, (Army Medical University), Chongqing 400038, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan-ling","family":"Long","sequence":"additional","affiliation":[{"name":"Southwest Hospital\/Southwest Eye Hospital, Third Military Medical University, (Army Medical University), Chongqing 400038, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia-yun","family":"Ren","sequence":"additional","affiliation":[{"name":"Southwest Hospital\/Southwest Eye Hospital, Third Military Medical University, (Army Medical University), Chongqing 400038, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chuang-huang","family":"Weng","sequence":"additional","affiliation":[{"name":"Southwest Hospital\/Southwest Eye Hospital, Third Military Medical University, (Army Medical University), Chongqing 400038, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai-wei","family":"Xu","sequence":"additional","affiliation":[{"name":"Southwest Hospital\/Southwest Eye Hospital, Third Military Medical University, (Army Medical University), Chongqing 400038, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong","family":"Liu","sequence":"additional","affiliation":[{"name":"Southwest Hospital\/Southwest Eye Hospital, Third Military Medical University, (Army Medical University), Chongqing 400038, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiao-hong","family":"Meng","sequence":"additional","affiliation":[{"name":"Southwest Hospital\/Southwest Eye Hospital, Third Military Medical University, (Army Medical University), Chongqing 400038, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3131-9420","authenticated-orcid":false,"given":"Shi-ying","family":"Li","sequence":"additional","affiliation":[{"name":"Southwest Hospital\/Southwest Eye Hospital, Third Military Medical University, (Army Medical University), Chongqing 400038, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zheng-qin","family":"Yin","sequence":"additional","affiliation":[{"name":"Southwest Hospital\/Southwest Eye Hospital, Third Military Medical University, (Army Medical University), Chongqing 400038, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","published-online":{"date-parts":[[2020,1,21]]},"reference":[{"key":"2021111619594390200_B1","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1016\/j.preteyeres.2018.03.005","article-title":"Non-syndromic retinitis pigmentosa","volume":"66","author":"Verbakel","year":"2018","journal-title":"Prog. 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