{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T14:55:41Z","timestamp":1773327341397,"version":"3.50.1"},"reference-count":50,"publisher":"Public Library of Science (PLoS)","issue":"12","license":[{"start":{"date-parts":[[2016,12,9]],"date-time":"2016-12-09T00:00:00Z","timestamp":1481241600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/publicdomain\/zero\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","award":["1R01EY022714"],"award-info":[{"award-number":["1R01EY022714"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0167562","type":"journal-article","created":{"date-parts":[[2016,12,9]],"date-time":"2016-12-09T22:04:17Z","timestamp":1481321057000},"page":"e0167562","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":10,"title":["Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts"],"prefix":"10.1371","volume":"11","author":[{"given":"Bushra","family":"Irum","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahid Y.","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Daud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Firoz","family":"Kabir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bushra","family":"Rauf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fareeha","family":"Fatima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hira","family":"Iqbal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arif O.","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saif","family":"Al Obaisi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad Asif","family":"Naeem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Idrees A.","family":"Nasir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaheen N.","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tayyab","family":"Husnain","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheikh","family":"Riazuddin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Javed","family":"Akram","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allen O.","family":"Eghrari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. Amer","family":"Riazuddin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2016,12,9]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1098\/rstb.2010.0324","article-title":"Lens fibre cell differentiation and organelle loss: many paths lead to clarity","volume":"366","author":"MA Wride","year":"2011","journal-title":"Philos Trans R Soc Lond B Biol Sci"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<497::AID-AJMG8>3.0.CO;2-K","article-title":"Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain","volume":"75","author":"E Bermejo","year":"1998","journal-title":"Am J Med Genet"},{"issue":"Suppl 1","key":"ref3","first-page":"S1","article-title":"Elimination of cataract blindness: a global perspective entering the new millenium","volume":"45","author":"DJ Apple","year":"2000","journal-title":"Surv Ophthalmol"},{"key":"ref4","first-page":"227","article-title":"Childhood blindness in the context of VISION 2020\u2014the right to sight","volume":"79","author":"C Gilbert","year":"2001","journal-title":"Bull World Health Organ"},{"key":"ref5","first-page":"2007","article-title":"Cat-Map: putting cataract on the map","volume":"16","author":"A Shiels","year":"2010","journal-title":"Mol Vis"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1111\/cge.12182","article-title":"Genetics of human cataract","volume":"84","author":"A Shiels","year":"2013","journal-title":"Clin Genet"},{"key":"ref7","first-page":"159","article-title":"Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2","volume":"41","author":"D Gill","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref8","first-page":"1635","article-title":"Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p","volume":"13","author":"T Butt","year":"2007","journal-title":"Mol Vis"},{"key":"ref9","first-page":"511","article-title":"Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family","volume":"16","author":"H Kaul","year":"2010","journal-title":"Mol Vis"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"e85","DOI":"10.1136\/jmg.2007.050138","article-title":"Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract","volume":"44","author":"SP Ponnam","year":"2007","journal-title":"J Med Genet"},{"key":"ref11","first-page":"559","article-title":"A gene causing autosomal recessive cataract maps to the short arm of chromosome 3","volume":"3","author":"E Pras","year":"2001","journal-title":"Isr Med Assoc J"},{"key":"ref12","first-page":"2634","article-title":"Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q","volume":"16","author":"N Sabir","year":"2010","journal-title":"Mol Vis"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.1167\/iovs.03-1117","article-title":"A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts","volume":"45","author":"E Pras","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref14","first-page":"240","article-title":"A new locus for autosomal recessive congenital cataract identified in a Pakistani family","volume":"16","author":"H Kaul","year":"2010","journal-title":"Mol Vis"},{"key":"ref15","first-page":"2911","article-title":"Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p","volume":"16","author":"N Sabir","year":"2010","journal-title":"Mol Vis"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1086\/318798","article-title":"A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22","volume":"68","author":"E Heon","year":"2001","journal-title":"Am J Hum Genet"},{"key":"ref17","first-page":"980","article-title":"Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family","volume":"15","author":"LA Safieh","year":"2009","journal-title":"Mol Vis"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"2716","DOI":"10.1167\/iovs.03-1370","article-title":"A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract","volume":"45","author":"N Smaoui","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref19","first-page":"682","article-title":"Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1","volume":"16","author":"A Yasmeen","year":"2010","journal-title":"Mol Vis"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1167\/iovs.04-0955","article-title":"A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family","volume":"46","author":"SA Riazuddin","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"1363","DOI":"10.1086\/340318","article-title":"A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family","volume":"70","author":"E Pras","year":"2002","journal-title":"Am J Hum Genet"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1007\/s00439-006-0319-6","article-title":"Autosomal recessive juvenile onset cataract associated with mutation in BFSP1","volume":"121","author":"RD Ramachandran","year":"2007","journal-title":"Hum Genet"},{"key":"ref23","first-page":"3511","article-title":"A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family","volume":"41","author":"E Pras","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"2100","DOI":"10.1167\/iovs.04-1481","article-title":"Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families","volume":"46","author":"SA Riazuddin","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"827","DOI":"10.1016\/j.ajhg.2011.05.008","article-title":"Mutations in FYCO1 cause autosomal-recessive congenital cataracts","volume":"88","author":"J Chen","year":"2011","journal-title":"Am J Hum Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1002\/humu.22071","article-title":"Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus","volume":"33","author":"MA Aldahmesh","year":"2012","journal-title":"Hum Mutat"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"1571","DOI":"10.1126\/science.1195970","article-title":"Mutations in the RNA granule component TDRD7 cause cataract and glaucoma","volume":"331","author":"SA Lachke","year":"2011","journal-title":"Science"},{"key":"ref28","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1038\/nature14650","article-title":"Lanosterol reverses protein aggregation in cataracts","volume":"523","author":"L Zhao","year":"2015","journal-title":"Nature"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"2208","DOI":"10.1167\/iovs.06-1019","article-title":"Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract","volume":"48","author":"D Cohen","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref30","doi-asserted-by":"crossref","first-page":"3700","DOI":"10.1016\/S0021-9258(18)50640-2","article-title":"Developmental change and genetic defect in the carbohydrate structure of band 3 glycoprotein of human erythrocyte membrane","volume":"254","author":"M Fukuda","year":"1979","journal-title":"J Biol Chem"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"3221","DOI":"10.1016\/S0021-9258(18)50747-X","article-title":"Characterization of a blood group I-active ganglioside. Structural requirements for I and i specificities","volume":"254","author":"K Watanabe","year":"1979","journal-title":"J Biol Chem"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"221","DOI":"10.7326\/0003-4819-44-2-221","article-title":"Type-specific cold auto-antibodies as a cause of acquired hemolytic anemia and hemolytic transfusion reactions: biologic test with bovine red cells","volume":"44","author":"AS Wiener","year":"1956","journal-title":"Ann Intern Med"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1038\/188753a0","article-title":"Anti-i: a new cold antibody","volume":"188","author":"WL Marsh","year":"1960","journal-title":"Nature"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"12796","DOI":"10.1016\/S0021-9258(18)67163-7","article-title":"Structures of O-linked oligosaccharides isolated from normal granulocytes, chronic myelogenous leukemia cells, and acute myelogenous leukemia cells","volume":"261","author":"M Fukuda","year":"1986","journal-title":"J Biol Chem"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"3840","DOI":"10.1182\/blood.V98.13.3840","article-title":"Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen","volume":"98","author":"LC Yu","year":"2001","journal-title":"Blood"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"625","DOI":"10.2183\/pjab1945.48.625","article-title":"A note on possible close linkage between the Ii blood locus and a congenital cataract locus","volume":"48","author":"H Yamaguchi","year":"1972","journal-title":"Proc. Jpn. Acad"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"2870","DOI":"10.1182\/blood-2002-09-2838","article-title":"A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression","volume":"101","author":"N Inaba","year":"2003","journal-title":"Blood"},{"key":"ref38","first-page":"1011","article-title":"Hematologic biomarkers in childhood cataracts","volume":"17","author":"O Wussuki-Lior","year":"2011","journal-title":"Mol Vis"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/gim.2012.86","article-title":"Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes","volume":"14","author":"MA Aldahmesh","year":"2012","journal-title":"Genet Med"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1007\/s00439-011-1062-1","article-title":"An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group","volume":"131","author":"G Borck","year":"2012","journal-title":"Hum Genet"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"e0137973","DOI":"10.1371\/journal.pone.0137973","article-title":"Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts","volume":"10","author":"X Jiaox","year":"2015","journal-title":"PLoS One"},{"key":"ref42","doi-asserted-by":"crossref","first-page":"e0157005","DOI":"10.1371\/journal.pone.0157005","article-title":"A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts","volume":"11","author":"X Jiao","year":"2016","journal-title":"PLoS One"},{"key":"ref43","first-page":"460","article-title":"Easy calculations of lod scores and genetic risks on small computers","volume":"36","author":"GM Lathrop","year":"1984","journal-title":"Am J Hum Genet"},{"key":"ref44","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1159\/000154222","article-title":"Avoiding recomputation in genetic linkage analysis","volume":"44","author":"AA Schaffer","year":"1994","journal-title":"Hum Hered"},{"key":"ref45","doi-asserted-by":"crossref","first-page":"4919","DOI":"10.1167\/iovs.14-16253","article-title":"Transcriptome Profiling of Developing Murine Lens Through RNA Sequencing","volume":"56","author":"SY Khan","year":"2015","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref46","article-title":"Non-coding RNA Profiling of Developing Murine Lens","author":"SY Khan","year":"2016","journal-title":"Exp Eye Res"},{"key":"ref47","doi-asserted-by":"crossref","first-page":"2081","DOI":"10.1182\/blood-2002-09-2693","article-title":"The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts","volume":"101","author":"LC Yu","year":"2003","journal-title":"Blood"},{"key":"ref48","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1097\/MOH.0b013e32834baae9","article-title":"Molecular genetics of the blood group I system and the regulation of I antigen expression during erythropoiesis and granulopoiesis","volume":"18","author":"LC Yu","year":"2011","journal-title":"Curr Opin Hematol"},{"key":"ref49","doi-asserted-by":"crossref","first-page":"7828","DOI":"10.1128\/MCB.25.17.7828-7838.2005","article-title":"Abnormalities caused by carbohydrate alterations in Ibeta6-N-acetylglucosaminyltransferase-deficient mice","volume":"25","author":"GY Chen","year":"2005","journal-title":"Mol Cell Biol"},{"key":"ref50","doi-asserted-by":"crossref","first-page":"1982","DOI":"10.1111\/j.1537-2995.2006.01006.x","article-title":"A novel IGnT allele responsible for the adult i phenotype","volume":"46","author":"M Lin","year":"2006","journal-title":"Transfusion"}],"updated-by":[{"DOI":"10.1371\/journal.pone.0173719","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2017,3,9]],"date-time":"2017-03-09T00:00:00Z","timestamp":1489017600000}}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0167562","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,16]],"date-time":"2022-07-16T20:21:55Z","timestamp":1658002915000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0167562"}},"subtitle":[],"editor":[{"given":"Usha P.","family":"Andley","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2016,12,9]]},"references-count":50,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2016,12,9]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0167562","relation":{"correction":[{"id-type":"doi","id":"10.1371\/journal.pone.0173719","asserted-by":"object"}]},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,12,9]]}}}