{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T11:46:17Z","timestamp":1790595977829,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,1,15]],"date-time":"2020-01-15T00:00:00Z","timestamp":1579046400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Panel\u2010based targeted exome sequencing was applied to identify the pathogenic variants and genetic characteristics of retinitis pigmentosa (RP) in two Chinese families, and to gain a deeper understanding of the relationship between clinical manifestations and genotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 17 subjects, comprising two probands (total patients: four subjects) and their family member, were recruited in this study. All subjects underwent comprehensive ophthalmic examinations and clinical evaluations, and the complete history and medical records were collected according to the standard procedures. All participants were screened using the multigene panel test (Target_Eye_792_V2 chip), and Sanger sequencing was used to confirm the candidate variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among these two families, a total of three novel mutations in the <jats:italic>EYS<\/jats:italic> gene were identified in patients, including a homozygous frameshift mutation c.9252_9253insT detected in two patients in one family, and the compound heterozygous splicesite mutation c.5644+2T&gt;C and frameshift mutation c.1920_1923delTGAG detected in two patients in the another family. All patients in both families had early onset of night blindness and poor visual acuity, and with typical posterior capsule opacification. The mutation co\u2010segregated within all recruited individuals. In addition, one patient with compound heterozygous mutations was found to have typical blue\u2010blindness symptoms and detected a previously reported disease\u2010causing mutation c.235G&gt;A in <jats:italic>OPN1SW<\/jats:italic> gene, which caused blue blindness manifestations and was first discovered in patient combined with RP causative genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Panel\u2010based targeted exome sequencing was used to identify three novel variants of RP causative gene, and we also detected a known pathogenic variants of blue\u2010blindness causative genes in two patients. Our finding will provide a powerful basis for genetic counseling and enhance our current understanding of the genetics factors for RP families.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1117","type":"journal-article","created":{"date-parts":[[2020,1,16]],"date-time":"2020-01-16T06:34:36Z","timestamp":1579156476000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by <i>EYS<\/i> mutations"],"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":"Jian\u2010kang","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Computer Science City University of Hong Kong Kowloon Hong 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