{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,12]],"date-time":"2025-09-12T17:39:48Z","timestamp":1757698788309},"reference-count":22,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2010,8,10]],"date-time":"2010-08-10T00:00:00Z","timestamp":1281398400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Retinitis pigmentosa is the most important hereditary retinal degenerative disease, which has a high degree of clinical and genetic heterogeneity. More than half of all cases of retinitis pigmentosa are autosomal recessive (arRP), but the gene(s) causing arRP in most families has yet to be identified. The purpose of this study is to identify the genetic basis of severe arRP in a consanguineous Chinese family.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Linkage and haplotype analyses were used to define the chromosomal location of the pathogenic gene in the Chinese arRP family. Direct DNA sequence analysis of the entire coding region and exon-intron boundaries of <jats:italic>EYS<\/jats:italic> was used to determine the disease-causing mutation, and to demonstrate that the mutation co-segregates with the disease in the family.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>A single nucleotide substitution of G to T at nucleotide 5506 of EYS was identified in the Chinese arRP family. This change caused a substitution of a glutamic acid residue at codon 1,836 by a stop codon TAA (p.E1836X), and resulted in a premature truncated EYS protein with 1,835 amino acids. Three affected siblings in the family were homozygous for the p.E1836X mutation, while the other unaffected family members carried one mutant allele and one normal EYS allele. The nonsense mutation p.E1836X was not detected in 200 unrelated normal controls.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>The <jats:italic>EYS<\/jats:italic> gene is a recently identified disease-causing gene for retinitis pigmentosa, and encodes the orthologue of <jats:italic>Drosophila<\/jats:italic> spacemaker. To date, there are only eight mutations in <jats:italic>EYS<\/jats:italic> that have been identified to cause arRP. Here we report one novel homozygous nonsense mutation of <jats:italic>EYS<\/jats:italic> in a consanguineous Chinese arRP family. Our study represents the first independent confirmation that mutations in <jats:italic>EYS<\/jats:italic> cause arRP. Additionally, this is the first <jats:italic>EYS<\/jats:italic> mutation identified in the Chinese population.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-11-121","type":"journal-article","created":{"date-parts":[[2010,8,10]],"date-time":"2010-08-10T06:16:34Z","timestamp":1281420994000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa"],"prefix":"10.1186","volume":"11","author":[{"given":"Yukan","family":"Huang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guohua","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mugen","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing K","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhaohui","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2010,8,10]]},"reference":[{"issue":"9549","key":"682_CR1","doi-asserted-by":"publisher","first-page":"1795","DOI":"10.1016\/S0140-6736(06)69740-7","volume":"18; 368","author":"DT Hartong","year":"2006","unstructured":"Hartong DT, Berson EL, Dryja TP: Retinitis pigmentosa. Lancet. 2006, 18; 368 (9549): 1795-809. 10.1016\/S0140-6736(06)69740-7.","journal-title":"Lancet"},{"issue":"2","key":"682_CR2","first-page":"223","volume":"32","author":"JA Boughman","year":"1980","unstructured":"Boughman JA, Conneally PM, Nance WE: Population genetic studies of retinitis pigmentosa. Am J Hum Genet. 1980, 32 (2): 223-235.","journal-title":"Am J Hum Genet"},{"issue":"1","key":"682_CR3","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.ophtha.2003.05.010","volume":"111","author":"H Buch","year":"2004","unstructured":"Buch H, Vinding T, La Cour M, Appleyard M, Jensen GB, Nielsen NV: Prevalence and causes of visual impairment and blindness among 9980 Scandinavian adults: the Copenhagen City Eye Study. Ophthalmology. 2004, 111 (1): 53-61. 10.1016\/j.ophtha.2003.05.010.","journal-title":"Ophthalmology"},{"issue":"4","key":"682_CR4","first-page":"315","volume":"25","author":"HM Tous","year":"2006","unstructured":"Tous HM, Izquierdo NJ: Retinitis pigmentosa in Puerto Rico. P R Health Sci J. 2006, 25 (4): 315-8.","journal-title":"P R Health Sci J"},{"issue":"1-2","key":"682_CR5","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1016\/j.cccn.2004.08.004","volume":"351","author":"DY Wang","year":"2005","unstructured":"Wang DY, Chan WM, Tam POS, Baum L, Lam DS, Chong KK, Fan BJ, Pang CP: Gene mutations in retinitis pigmentosa and their clinical implications. Clin Chim Acta. 2005, 351 (1-2): 5-16. 10.1016\/j.cccn.2004.08.004.","journal-title":"Clin Chim Acta"},{"issue":"3","key":"682_CR6","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1016\/0002-9394(84)90636-6","volume":"97","author":"CH Bunker","year":"1984","unstructured":"Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH: Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol. 1984, 97 (3): 357-65.","journal-title":"Am J Ophthalmol"},{"issue":"11","key":"682_CR7","doi-asserted-by":"publisher","first-page":"1285","DOI":"10.1038\/ng.241","volume":"40","author":"MM Abd El-Aziz","year":"2008","unstructured":"Abd El-Aziz MM, Barragan I, O'Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G: EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa. Nat Genet. 2008, 40 (11): 1285-7. 10.1038\/ng.241.","journal-title":"Nat Genet"},{"issue":"5","key":"682_CR8","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1016\/j.ajhg.2008.10.014","volume":"83","author":"RW Collin","year":"2008","unstructured":"Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI, Cremers FP, Khaliq S, Hameed A, Ismail M, Mehdi SQ, Bessant DA, Payne AM, Bhattacharya SS: Identification of a 2 Mb human ortholog of Drosophila eyes shut\/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet. 2008, 83 (5): 594-603. 10.1016\/j.ajhg.2008.10.014.","journal-title":"Am J Hum Genet"},{"key":"682_CR9","doi-asserted-by":"publisher","first-page":"1452","DOI":"10.1086\/301866","volume":"62","author":"A Ruiz","year":"1998","unstructured":"Ruiz A, Borrego S, Marcos I, Anti\u00f1olo G: A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters. Am J Hum Genet. 1998, 62: 1452-1459. 10.1086\/301866.","journal-title":"Am J Hum Genet"},{"issue":"2","key":"682_CR10","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1086\/302493","volume":"65","author":"S Khaliq","year":"1999","unstructured":"Khaliq S, Hameed A, Ismail M, et al: Refinement of the locus for autosomal recessive Retinitis pigmentosa (RP25) linked to chromosome 6q in a family of Pakistani origin. Am J Hum Genet. 1999, 65 (2): 571-4. 10.1086\/302493.","journal-title":"Am J Hum Genet"},{"key":"682_CR11","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1159\/000084250","volume":"37","author":"I Barragan","year":"2005","unstructured":"Barragan I, Marcos I, Borrego S, Anti\u00f1olo G: Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa. Ophthalmic Res. 2005, 37: 89-93. 10.1159\/000084250.","journal-title":"Ophthalmic Res"},{"issue":"Pt 3","key":"682_CR12","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1111\/j.1469-1809.2006.00333.x","volume":"71","author":"MM Abd El-Aziz","year":"2007","unstructured":"Abd El-Aziz MM, El-Ashry MF, Chan WM, Chong KL, Barragan I, Anti\u00f1olo G, Pang CP, Bhattacharya SS: A novel genetic study of Chinese families with autosomal recessive retinitis pigmentosa. Ann Hum Genet. 2007, 71 (Pt 3): 281-94. 10.1111\/j.1469-1809.2006.00333.x.","journal-title":"Ann Hum Genet"},{"issue":"Pt 4","key":"682_CR13","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1111\/j.1469-1809.2008.00448.x","volume":"72","author":"I Barrag\u00e1n","year":"2008","unstructured":"Barrag\u00e1n I, Abd El-Aziz MM, Borrego S, El-Ashry MF, O'Driscoll C, Bhattacharya SS, Anti\u00f1olo G: Linkage validation of RP25 Using the 10K genechip array and further refinement of the locus by new linked families. Ann Hum Genet. 2008, 72 (Pt 4): 454-62. 10.1111\/j.1469-1809.2008.00448.x.","journal-title":"Ann Hum Genet"},{"issue":"8","key":"682_CR14","doi-asserted-by":"publisher","first-page":"3461","DOI":"10.1167\/iovs.05-1438","volume":"47","author":"MG Liu","year":"2006","unstructured":"Liu MG, Ke T, Wang ZX, Yang Q, Chang W, Jiang F, Tang Z, Li H, Ren X, Wang X, Wang T, Li Q, Yang J, Liu J, Wang QK: Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family. Invest Ophth Vis Sci. 2006, 47 (8): 3461-3466. 10.1167\/iovs.05-1438.","journal-title":"Invest Ophth Vis Sci"},{"issue":"7112","key":"682_CR15","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1038\/nature05128","volume":"443","author":"AC Zelhof","year":"2006","unstructured":"Zelhof AC, Hardy RW, Becker A, Zuker CS: Transforming the architecture of compound eyes. Nature. 2006, 443 (7112): 696-9. 10.1038\/nature05128.","journal-title":"Nature"},{"issue":"1","key":"682_CR16","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1093\/hmg\/9.1.27","volume":"9","author":"MA Maw","year":"2000","unstructured":"Maw MA, Corbeil D, Koch J, Hellwig A, Wilson-Wheeler JC, Bridges RJ, Kumaramanickavel G, John S, Nancarrow D, R\u00f6per K, Weigmann A, Huttner WB, Denton MJ: A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration. Hum Mol Genet. 2000, 9 (1): 27-34. 10.1093\/hmg\/9.1.27.","journal-title":"Hum Mol Genet"},{"issue":"3-4","key":"682_CR17","doi-asserted-by":"publisher","first-page":"293","DOI":"10.1007\/s00439-007-0395-2","volume":"122","author":"Q Zhang","year":"2007","unstructured":"Zhang Q, Zulfiqar F, Xiao X, Riazuddin SA, Ahmad Z, Caruso R, MacDonald I, Sieving P, Riazuddin S, Hejtmancik JF: Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene. Hum Genet. 2007, 122 (3-4): 293-9. 10.1007\/s00439-007-0395-2.","journal-title":"Hum Genet"},{"issue":"8","key":"682_CR18","first-page":"2908","volume":"118","author":"Z Yang","year":"2008","unstructured":"Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K: Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest. 2008, 118 (8): 2908-16.","journal-title":"J Clin Invest"},{"key":"682_CR19","first-page":"1709","volume":"15","author":"E Pras","year":"2009","unstructured":"Pras E, Abu A, Rotenstreich Y, Avni I, Reish O, Morad Y, Reznik-Wolf H, Pras E: Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. Mol Vis. 2009, 15: 1709-16.","journal-title":"Mol Vis"},{"key":"682_CR20","volume-title":"Invest Ophthalmol Vis Sci","author":"MM Abd El-Aziz","year":"2010","unstructured":"Abd El-Aziz MM, O'Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Anti\u00f1olo G, Pang CP, Webster A, Bhattacharya SS: Identification of Novel Mutations in the ortholog of Drosophila eyes shut Gene (EYS) Causing Autosomal Recessive Retinitis Pigmentosa. Invest Ophthalmol Vis Sci. 2010,"},{"key":"682_CR21","volume-title":"Invest Ophthalmol Vis Sci","author":"D Bandah-Rozenfeld","year":"2010","unstructured":"Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born I, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D: Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Invest Ophthalmol Vis Sci. 2010,"},{"key":"682_CR22","volume-title":"Hum Mutat","author":"I Audo","year":"2010","unstructured":"Audo I, Sahel JA, Mohand-Sa\u00efd S, Lancelot ME, Antonio A, Moskova-Doumanova V, Nandrot EF, Doumanov J, Barragan I, Antinolo G, Bhattacharya SS, Zeitz C: EYS is a major gene for rod-cone dystrophies in France. Hum Mutat. 2010,"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-11-121.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2350-11-121\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-11-121","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-11-121.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T04:11:27Z","timestamp":1630469487000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/1471-2350-11-121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,10]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["682"],"URL":"https:\/\/doi.org\/10.1186\/1471-2350-11-121","relation":{},"ISSN":["1471-2350"],"issn-type":[{"value":"1471-2350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,10]]},"assertion":[{"value":"12 February 2010","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 August 2010","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 August 2010","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"121"}}