{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:04:23Z","timestamp":1780351463912,"version":"3.54.1"},"reference-count":22,"publisher":"Portland Press Ltd.","issue":"1","license":[{"start":{"date-parts":[[2019,7,25]],"date-time":"2019-07-25T00:00:00Z","timestamp":1564012800000},"content-version":"vor","delay-in-days":1280,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,2,1]]},"abstract":"<jats:p>Retinitis pigmentosa (RP) describes a group of inherited retinopathies that are characterized by the progressive degeneration of photoreceptor neurons, which causes night blindness, a reduction in the peripheral visual field and decreased visual acuity. More than 50 RP-related genes have been identified. In the present study, we analysed a Chinese family with autosomal recessive RP. We identified a compound heterozygous mutation, c.265delC and c.1537G&amp;gt;A, in CNGA1 using targeted next-generation sequencing (NGS) of RP-causing genes. The mutations were validated in the family members by Sanger sequencing. The mutations co-segregated with the RP phenotype and were absent from ethnically-matched control chromosomes. The mutant (mut) CNGA1 p.(G513R) protein caused by the mis-sense novel mutation c.1537G&amp;gt;A was expressed in\u00a0vitro. The mut CNGA1 p.(G513R) protein was largely retained inside the cell rather than being targeted to the plasma membrane, suggesting the absence of cGMP-gated cation channels in the plasma membrane would be deleterious to rod photoreceptors, leading lead to RP.<\/jats:p>","DOI":"10.1042\/bsr20150131","type":"journal-article","created":{"date-parts":[[2016,1,23]],"date-time":"2016-01-23T02:58:21Z","timestamp":1453517901000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Novel compound heterozygous mutation in the <i>CNGA1<\/i> gene underlie autosomal recessive retinitis pigmentosa in a Chinese family"],"prefix":"10.1042","volume":"36","author":[{"given":"Xin","family":"Jin","sequence":"first","affiliation":[{"name":"Southwest Hospital, Southwest Eye Hospital, Third Military Medical University, Chongqing 400038, China"},{"name":"Department of Ophthalmology, General Hospital of Chinese PLA, Beijing 100853, China"},{"name":"Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing 400038, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling-Hui","family":"Qu","sequence":"additional","affiliation":[{"name":"Southwest Hospital, Southwest Eye Hospital, Third Military Medical University, Chongqing 400038, China"},{"name":"Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing 400038, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bao-Ke","family":"Hou","sequence":"additional","affiliation":[{"name":"Southwest Hospital, Southwest Eye Hospital, Third Military Medical University, Chongqing 400038, China"},{"name":"Department of Ophthalmology, General Hospital of Chinese PLA, Beijing 100853, China"},{"name":"Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing 400038, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hai-Wei","family":"Xu","sequence":"additional","affiliation":[{"name":"Southwest Hospital, Southwest Eye Hospital, Third Military Medical University, Chongqing 400038, China"},{"name":"Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing 400038, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Hong","family":"Meng","sequence":"additional","affiliation":[{"name":"Southwest Hospital, Southwest Eye Hospital, Third Military Medical University, Chongqing 400038, China"},{"name":"Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing 400038, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi-Pui","family":"Pang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR 999077, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheng-Qin","family":"Yin","sequence":"additional","affiliation":[{"name":"Southwest Hospital, Southwest Eye Hospital, Third Military Medical University, Chongqing 400038, China"},{"name":"Department of Ophthalmology, General Hospital of Chinese PLA, Beijing 100853, China"},{"name":"Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing 400038, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2016,1,22]]},"reference":[{"key":"2021111618260119900_B1","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1186\/1750-1172-1-40","article-title":"Retinitis pigmentosa","volume":"1","author":"Hamel","year":"2006","journal-title":"Orphanet. 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