{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T08:44:17Z","timestamp":1759826657249,"version":"3.41.2"},"reference-count":49,"publisher":"Portland Press Ltd.","issue":"7","license":[{"start":{"date-parts":[[2019,9,19]],"date-time":"2019-09-19T00:00:00Z","timestamp":1568851200000},"content-version":"vor","delay-in-days":80,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,7,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Retinitis pigmentosa (RP), the most common type of inherited retinal degeneration causing blindness, initially manifests as severely impaired rod function followed by deteriorating cone function. Mutations in the rhodopsin gene (RHO) are the most common cause of autosomal dominant RP (adRP). The present study aims to identify the disease-causing mutation in a numerous, four-generation Han-Chinese family with adRP detected by whole exome sequencing and Sanger sequencing. Afflicted family members present classic adRP along with heterogeneous clinical phenotypes including differing refractive errors, cataracts, astigmatism and epiretinal membranes. A missense mutation, c.403C&amp;gt;T (p.R135W), in the RHO gene was identified in nine subjects and it co-segregated with family members. The mutation is predicted to be disease-causing and results in rhodopsin protein abnormalities. The present study extends the genotype\u2013phenotype relationship between RHO gene mutations and adRP clinical findings. The results have implications for familial genetic counseling, clinical management and developing RP target gene therapy strategies.<\/jats:p>","DOI":"10.1042\/bsr20182198","type":"journal-article","created":{"date-parts":[[2019,6,25]],"date-time":"2019-06-25T15:45:25Z","timestamp":1561477525000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Heterozygous <i>RHO<\/i> p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors"],"prefix":"10.1042","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9358-9146","authenticated-orcid":false,"given":"Yuan","family":"Wu","sequence":"first","affiliation":[{"name":"Center for Experimental Medicine and Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China"},{"name":"Department of Clinical Laboratory, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Guo","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine and Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China"},{"name":"Department of Medical Information, School of Life Sciences, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junhui","family":"Yi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongbo","family":"Xu","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine and Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7558-0669","authenticated-orcid":false,"given":"Lamei","family":"Yuan","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine and Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhijian","family":"Yang","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine and Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3240-4352","authenticated-orcid":false,"given":"Hao","family":"Deng","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine and Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"288","published-online":{"date-parts":[[2019,7,12]]},"reference":[{"key":"2021111619421848800_B1","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1097\/APO.0000000000000227","article-title":"Retinitis pigmentosa: progress and perspective","volume":"5","author":"Zhang","year":"2016","journal-title":"Asian Pac. J. Ophthalmol."},{"key":"2021111619421848800_B2","first-page":"2398","article-title":"Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa","volume":"18","author":"Kim","year":"2012","journal-title":"Mol. Vis."},{"key":"2021111619421848800_B3","doi-asserted-by":"publisher","first-page":"302487","DOI":"10.1155\/2014\/302487","article-title":"Whole exome sequencing reveals genetic predisposition in a large family with retinitis pigmentosa","volume":"2014","author":"Wu","year":"2014","journal-title":"Biomed Res. Int."},{"key":"2021111619421848800_B4","doi-asserted-by":"publisher","first-page":"918","DOI":"10.3346\/jkms.2010.25.6.918","article-title":"Hereditary and clinical features of retinitis pigmentosa in Koreans","volume":"25","author":"Lee","year":"2010","journal-title":"J. Korean Med. Sci."},{"key":"2021111619421848800_B5","doi-asserted-by":"publisher","first-page":"642","DOI":"10.1007\/s003470050175","article-title":"Complicated cataracts in various forms of retinitis pigmentosa. Type and incidence","volume":"94","author":"Auffarth","year":"1997","journal-title":"Ophthalmologe"},{"key":"2021111619421848800_B6","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1136\/bjo.62.3.163","article-title":"Refractive errors of retinitis pigmentosa patients","volume":"62","author":"Sieving","year":"1978","journal-title":"Br. J. Ophthalmol."},{"key":"2021111619421848800_B7","first-page":"693","article-title":"Retinitis pigmentosa: clinical observations and correlations","volume":"81","author":"Pruett","year":"1983","journal-title":"Trans. Am. Ophthalmol. Soc."},{"key":"2021111619421848800_B8","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1001\/archopht.125.2.151","article-title":"Perspective on genes and mutations causing retinitis pigmentosa","volume":"125","author":"Daiger","year":"2007","journal-title":"Arch. Ophthalmol."},{"key":"2021111619421848800_B9","doi-asserted-by":"publisher","first-page":"963","DOI":"10.1002\/humu.22045","article-title":"Next-generation genetic testing for retinitis pigmentosa","volume":"33","author":"Neveling","year":"2012","journal-title":"Hum. Mutat."},{"key":"2021111619421848800_B10","doi-asserted-by":"publisher","first-page":"940","DOI":"10.1167\/iovs.15-18702","article-title":"Genetic analysis of the rhodopsin gene identifies a mosaic dominant retinitis pigmentosa mutation in a healthy individual","volume":"57","author":"Beryozkin","year":"2016","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021111619421848800_B11","doi-asserted-by":"publisher","first-page":"210947","DOI":"10.1155\/2014\/210947","article-title":"RHO mutations (p.W126L and p.A346P) in two Japanese families with autosomal dominant retinitis pigmentosa","volume":"2014","author":"Katagiri","year":"2014","journal-title":"J. Ophthalmol."},{"key":"2021111619421848800_B12","first-page":"844","article-title":"Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa","volume":"17","author":"Kim","year":"2011","journal-title":"Mol. Vis."},{"key":"2021111619421848800_B13","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1056\/NEJMoa1309635","article-title":"Mutant cohesin in premature ovarian failure","volume":"370","author":"Caburet","year":"2014","journal-title":"N. Engl. J. Med."},{"key":"2021111619421848800_B14","doi-asserted-by":"publisher","first-page":"e1002084","DOI":"10.1371\/journal.pgen.1002084","article-title":"Exome sequencing identifies ZNF644 mutations in high myopia","volume":"7","author":"Shi","year":"2011","journal-title":"PLoS Genet."},{"key":"2021111619421848800_B15","doi-asserted-by":"publisher","first-page":"3493","DOI":"10.1093\/brain\/awr289","article-title":"Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias","volume":"134","author":"Wang","year":"2011","journal-title":"Brain"},{"key":"2021111619421848800_B16","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat. Methods"},{"key":"2021111619421848800_B17","doi-asserted-by":"publisher","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"2021111619421848800_B18","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1515\/hsz-2014-0187","article-title":"Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing","volume":"396","author":"Yuan","year":"2015","journal-title":"Biol. Chem."},{"key":"2021111619421848800_B19","doi-asserted-by":"publisher","first-page":"e0127529","DOI":"10.1371\/journal.pone.0127529","article-title":"Identification of a novel mutation in the COL2A1 gene in a Chinese family with spondyloepiphyseal dysplasia congenita","volume":"10","author":"Huang","year":"2015","journal-title":"PLoS ONE"},{"key":"2021111619421848800_B20","doi-asserted-by":"publisher","first-page":"2328","DOI":"10.1111\/jcmm.12924","article-title":"A novel heterozygous COL4A4 missense mutation in a Chinese family with focal segmental glomerulosclerosis","volume":"20","author":"Wu","year":"2016","journal-title":"J. Cell. Mol. Med."},{"key":"2021111619421848800_B21","doi-asserted-by":"publisher","first-page":"5097","DOI":"10.1007\/s12035-015-9439-0","article-title":"Identification of a novel mutation in the titin gene in a Chinese family with limb-girdle muscular dystrophy 2J","volume":"53","author":"Zheng","year":"2016","journal-title":"Mol. Neurobiol."},{"key":"2021111619421848800_B22","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1038\/ng0692-209","article-title":"A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa","volume":"1","author":"Rosenfeld","year":"1992","journal-title":"Nat. Genet."},{"key":"2021111619421848800_B23","doi-asserted-by":"publisher","first-page":"239","DOI":"10.3109\/13816810.2014.958862","article-title":"Mutational analysis of the rhodopsin gene in sector retinitis pigmentosa","volume":"36","author":"Napier","year":"2015","journal-title":"Ophthalmic Genet."},{"key":"2021111619421848800_B24","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1038\/343364a0","article-title":"A point mutation of the rhodopsin gene in one form of retinitis pigmentosa","volume":"343","author":"Dryja","year":"1990","journal-title":"Nature"},{"key":"2021111619421848800_B25","doi-asserted-by":"publisher","first-page":"21307","DOI":"10.1038\/srep21307","article-title":"Autosomal recessive retinitis pigmentosa with homozygous rhodopsin mutation E150K and non-coding cis-regulatory variants in CRX-binding regions of SAMD7","volume":"6","author":"Van Schil","year":"2016","journal-title":"Sci. Rep."},{"key":"2021111619421848800_B26","doi-asserted-by":"publisher","first-page":"9965","DOI":"10.1038\/srep09965","article-title":"Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies","volume":"5","author":"Saqib","year":"2015","journal-title":"Sci. Rep."},{"key":"2021111619421848800_B27","doi-asserted-by":"publisher","first-page":"57","DOI":"10.3109\/13816810.2010.535892","article-title":"A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa","volume":"32","author":"Kartasasmita","year":"2011","journal-title":"Ophthalmic Genet."},{"key":"2021111619421848800_B28","first-page":"2526","article-title":"A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa","volume":"15","author":"Azam","year":"2009","journal-title":"Mol. Vis."},{"key":"2021111619421848800_B29","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1076\/opge.24.4.225.17235","article-title":"A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing","volume":"24","author":"Greenberg","year":"2003","journal-title":"Ophthalmic Genet."},{"key":"2021111619421848800_B30","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1038\/ng0994-10","article-title":"Missense rhodopsin mutation in a family with recessive RP","volume":"8","author":"Kumaramanickavel","year":"1994","journal-title":"Nat. Genet."},{"key":"2021111619421848800_B31","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1007\/978-1-4419-1399-9_30","article-title":"1 rhodopsin mutations in congenital night blindness","volume":"664","author":"McAlear","year":"2010","journal-title":"Adv. Exp. Med. Biol."},{"key":"2021111619421848800_B32","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1111\/cge.12203","article-title":"Genes and mutations causing retinitis pigmentosa","volume":"84","author":"Daiger","year":"2013","journal-title":"Clin. Genet."},{"key":"2021111619421848800_B33","doi-asserted-by":"publisher","first-page":"35918","DOI":"10.1074\/jbc.M114.609958","article-title":"Differential light-induced responses in sectorial inherited retinal degeneration","volume":"289","author":"Ramon","year":"2014","journal-title":"J. Biol. Chem."},{"key":"2021111619421848800_B34","doi-asserted-by":"publisher","first-page":"13336","DOI":"10.1523\/JNEUROSCI.1655-14.2014","article-title":"Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa","volume":"34","author":"Tam","year":"2014","journal-title":"J. Neurosci."},{"key":"2021111619421848800_B35","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1016\/j.gene.2013.01.048","article-title":"Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity","volume":"519","author":"Rivera-De","year":"2013","journal-title":"Gene"},{"key":"2021111619421848800_B36","doi-asserted-by":"publisher","first-page":"6481","DOI":"10.1073\/pnas.88.15.6481","article-title":"Rhodopsin mutations in autosomal dominant retinitis pigmentosa","volume":"88","author":"Sung","year":"1991","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"2021111619421848800_B37","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1076\/opge.20.3.173.2282","article-title":"Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4","volume":"20","author":"Bareil","year":"1999","journal-title":"Ophthalmic Genet."},{"key":"2021111619421848800_B38","doi-asserted-by":"publisher","first-page":"4556","DOI":"10.1016\/j.visres.2006.08.018","article-title":"Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects","volume":"46","author":"Iannaccone","year":"2006","journal-title":"Vis. Res."},{"key":"2021111619421848800_B39","first-page":"362","article-title":"Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa","volume":"22","author":"Abdulridha-Aboud","year":"2016","journal-title":"Mol. Vis."},{"key":"2021111619421848800_B40","doi-asserted-by":"publisher","first-page":"19759","DOI":"10.1038\/srep19759","article-title":"Identification of a rhodopsin gene mutation in a large family with autosomal dominant retinitis pigmentosa","volume":"6","author":"Yu","year":"2016","journal-title":"Sci. Rep."},{"key":"2021111619421848800_B41","doi-asserted-by":"publisher","first-page":"4869","DOI":"10.1021\/bi9731100","article-title":"Rhodopsin arginine-135 mutants are phosphorylated by rhodopsin kinase and bind arrestin in the absence of 11-cis-retinal","volume":"37","author":"Shi","year":"1998","journal-title":"Biochemistry"},{"key":"2021111619421848800_B42","doi-asserted-by":"publisher","first-page":"e17398","DOI":"10.1371\/journal.pone.0017398","article-title":"The roles of transmembrane domain helix-III during rhodopsin photoactivation","volume":"6","author":"Ou","year":"2011","journal-title":"PLoS ONE"},{"key":"2021111619421848800_B43","doi-asserted-by":"publisher","first-page":"145","DOI":"10.3109\/13816819209046483","article-title":"A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine)","volume":"13","author":"Andreasson","year":"1992","journal-title":"Ophthalmic Paediatr. Genet."},{"key":"2021111619421848800_B44","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1006\/geno.1993.1309","article-title":"Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa","volume":"17","author":"Bunge","year":"1993","journal-title":"Genomics"},{"key":"2021111619421848800_B45","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/S0002-9394(14)70530-6","article-title":"Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene","volume":"121","author":"Souied","year":"1996","journal-title":"Am. J. Ophthalmol."},{"key":"2021111619421848800_B46","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 J. Rare. Dis."},{"key":"2021111619421848800_B47","first-page":"2667","article-title":"Transgenic mice expressing IFN-gamma in the retina develop inflammation of the eye and photoreceptor loss","volume":"35","author":"Geiger","year":"1994","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"2021111619421848800_B48","first-page":"265","article-title":"Spectral domain optical coherence tomography findings in patients with retinitis pigmentosa","volume":"94","author":"Chebil","year":"2016","journal-title":"Tunis. Med."},{"key":"2021111619421848800_B49","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1159\/000351681","article-title":"Spectral domain optical coherence tomography findings in patients with retinitis pigmentosa","volume":"50","author":"Triolo","year":"2013","journal-title":"Ophthalmic Res."}],"container-title":["Bioscience Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/portlandpress.com\/bioscirep\/article-pdf\/doi\/10.1042\/BSR20182198\/846206\/bsr-2018-2198.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/portlandpress.com\/bioscirep\/article-pdf\/doi\/10.1042\/BSR20182198\/846206\/bsr-2018-2198.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,16]],"date-time":"2021-11-16T20:28:48Z","timestamp":1637094528000},"score":1,"resource":{"primary":{"URL":"https:\/\/portlandpress.com\/bioscirep\/article\/39\/7\/BSR20182198\/219286\/Heterozygous-RHO-p-R135W-missense-mutation-in-a"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7]]},"references-count":49,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,7,31]]}},"URL":"https:\/\/doi.org\/10.1042\/bsr20182198","relation":{},"ISSN":["0144-8463","1573-4935"],"issn-type":[{"type":"print","value":"0144-8463"},{"type":"electronic","value":"1573-4935"}],"subject":[],"published-other":{"date-parts":[[2019,7]]},"published":{"date-parts":[[2019,7]]},"article-number":"BSR20182198"}}