{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T00:37:12Z","timestamp":1782779832485,"version":"3.54.5"},"reference-count":27,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T00:00:00Z","timestamp":1689120000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T00:00:00Z","timestamp":1689120000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"The scientific research fund project of the Yunnan Education Department","award":["2023Y0637"],"award-info":[{"award-number":["2023Y0637"]}]},{"DOI":"10.13039\/100007471","name":"Applied Basic Research Foundation of Yunnan Province","doi-asserted-by":"publisher","award":["2019FE001(-070)"],"award-info":[{"award-number":["2019FE001(-070)"]}],"id":[{"id":"10.13039\/100007471","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Science and Technology Program of the 2nd affiliated Hospital of Kunming Medical University","award":["2020yk001"],"award-info":[{"award-number":["2020yk001"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Genet Genomics"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1007\/s00438-023-02052-y","type":"journal-article","created":{"date-parts":[[2023,7,12]],"date-time":"2023-07-12T16:01:53Z","timestamp":1689177713000},"page":"1237-1244","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family"],"prefix":"10.1007","volume":"298","author":[{"given":"Yanbo","family":"Kong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Haoan","family":"Yi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiu","family":"Duan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lipu","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinyu","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guojiu","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minjun","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Zha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9391-7461","authenticated-orcid":false,"given":"Yongshu","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,7,12]]},"reference":[{"key":"2052_CR1","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1055\/s-0029-1220327","volume":"35","author":"K Althaus","year":"2009","unstructured":"Althaus K, Greinacher A (2009) MYH9-related platelet disorders. Semin Thromb Hemost 35:189\u2013203","journal-title":"Semin Thromb Hemost"},{"key":"2052_CR2","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1080\/13816810.2022.2090010","volume":"1\u20135","author":"V Berry","year":"2022","unstructured":"Berry V, Fujinami K, Mochizuki K, Iwata T, Pontikos N, Quinlan RA, Michaelides M (2022) A recurrent variant in LIM2 causes an isolated congenital sutural\/lamellar cataract in a Japanese family. Ophthalmic Genet 1\u20135:622\u2013626","journal-title":"Ophthalmic Genet"},{"key":"2052_CR3","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1016\/j.pbiomolbio.2003.11.012","volume":"86","author":"H Bloemendal","year":"2004","unstructured":"Bloemendal H, de Jong W, Jaenicke R, Lubsen NH, Slingsby C, Tardieu A (2004) Ageing and vision: structure, stability and function of lens crystallins. Prog Biophys Mol Biol 86:407\u2013485","journal-title":"Prog Biophys Mol Biol"},{"key":"2052_CR4","doi-asserted-by":"publisher","first-page":"2120","DOI":"10.4103\/jfmpc.jfmpc_267_19","volume":"8","author":"GK Das","year":"2019","unstructured":"Das GK, Boriwal K, Chhabra P, Sahu PK, Kumar S, Kumar N (2019) Presenile cataract and its risk factors: a case control study. J Family Med Prim Care 8:2120\u20132123","journal-title":"J Family Med Prim Care"},{"key":"2052_CR5","doi-asserted-by":"publisher","first-page":"2714","DOI":"10.1002\/elps.1150181505","volume":"18","author":"N Guex","year":"1997","unstructured":"Guex N, Peitsch MC (1997) SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling. Electrophoresis 18:2714\u20132723","journal-title":"Electrophoresis"},{"key":"2052_CR6","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","volume":"596","author":"J Jumper","year":"2021","unstructured":"Jumper J, Evans R, Pritzel A, Green T, Figurnov M, Ronneberger O, Tunyasuvunakool K, Bates R, \u017d\u00eddek A, Potapenko A, Bridgland A, Meyer C, Kohl SAA, Ballard AJ, Cowie A, Romera-Paredes B, Nikolov S, Jain R, Adler J, Back T, Petersen S, Reiman D, Clancy E, Zielinski M, Steinegger M, Pacholska M, Berghammer T, Bodenstein S, Silver D, Vinyals O, Senior AW, Kavukcuoglu K, Kohli P, Hassabis D (2021) Highly accurate protein structure prediction with AlphaFold. Nature 596:583\u2013589","journal-title":"Nature"},{"key":"2052_CR7","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25:1754\u20131760","journal-title":"Bioinformatics"},{"key":"2052_CR8","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R (2009) The sequence alignment\/map format and SAMtools. Bioinformatics 25:2078\u20132079","journal-title":"Bioinformatics"},{"key":"2052_CR9","doi-asserted-by":"publisher","first-page":"107872","DOI":"10.1016\/j.exer.2019.107872","volume":"191","author":"J Li","year":"2020","unstructured":"Li J, Chen X, Yan Y, Yao K (2020) Molecular genetics of congenital cataracts. Exp Eye Res 191:107872","journal-title":"Exp Eye Res"},{"key":"2052_CR10","doi-asserted-by":"publisher","first-page":"600","DOI":"10.1016\/S0140-6736(17)30544-5","volume":"390","author":"YC Liu","year":"2017","unstructured":"Liu YC, Wilkins M, Kim T, Malyugin B, Mehta JS (2017) Cataracts. Lancet 390:600\u2013612","journal-title":"Lancet"},{"key":"2052_CR11","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1016\/j.bpj.2019.06.006","volume":"117","author":"IA Mills-Henry","year":"2019","unstructured":"Mills-Henry IA, Thol SL, Kosinski-Collins MS, Serebryany E, King JA (2019) Kinetic stability of long-lived human lens \u03b3-crystallins and their isolated double Greek key domains. Biophys J 117:269\u2013280","journal-title":"Biophys J"},{"key":"2052_CR12","doi-asserted-by":"publisher","first-page":"1363","DOI":"10.1086\/340318","volume":"70","author":"E Pras","year":"2002","unstructured":"Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E (2002) A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. Am J Hum Genet 70:1363\u20131367","journal-title":"Am J Hum Genet"},{"key":"2052_CR13","doi-asserted-by":"publisher","first-page":"2571","DOI":"10.1167\/iovs.10-6443","volume":"52","author":"O Puk","year":"2011","unstructured":"Puk O, Ahmad N, Wagner S, Hrab\u00e9 de Angelis M, Graw J (2011) First mutation in the \u03b2A2-crystallin encoding gene is associated with small lenses and age-related cataracts. Invest Ophthalmol vis Sci 52:2571\u20132576","journal-title":"Invest Ophthalmol vis Sci"},{"key":"2052_CR14","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1007\/s00439-013-1289-0","volume":"132","author":"LM Reis","year":"2013","unstructured":"Reis LM, Tyler RC, Muheisen S, Raggio V, Salviati L, Han DP, Costakos D, Yonath H, Hall S, Power P, Semina EV (2013) Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet 132:761\u2013770","journal-title":"Hum Genet"},{"key":"2052_CR15","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424","journal-title":"Genet Med"},{"key":"2052_CR16","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1021\/acs.accounts.0c00014","volume":"53","author":"KW Roskamp","year":"2020","unstructured":"Roskamp KW, Paulson CN, Brubaker WD, Martin RW (2020) Function and aggregation in structural eye lens crystallins. Acc Chem Res 53:863\u2013874","journal-title":"Acc Chem Res"},{"key":"2052_CR17","first-page":"768","volume":"12","author":"ST Santhiya","year":"2006","unstructured":"Santhiya ST, Soker T, Klopp N, Illig T, Prakash MV, Selvaraj B, Gopinath PM, Graw J (2006) Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family. Mol vis 12:768\u2013773","journal-title":"Mol vis"},{"key":"2052_CR18","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/j.exer.2016.06.011","volume":"156","author":"A Shiels","year":"2017","unstructured":"Shiels A, Hejtmancik JF (2017) Mutations and mechanisms in congenital and age-related cataracts. Exp Eye Res 156:95\u2013102","journal-title":"Exp Eye Res"},{"key":"2052_CR19","doi-asserted-by":"publisher","first-page":"108662","DOI":"10.1016\/j.exer.2021.108662","volume":"209","author":"A Shiels","year":"2021","unstructured":"Shiels A, Hejtmancik JF (2021) Inherited cataracts: genetic mechanisms and pathways new and old. Exp Eye Res 209:108662","journal-title":"Exp Eye Res"},{"key":"2052_CR20","first-page":"429","volume":"27","author":"D Stambolian","year":"1986","unstructured":"Stambolian D, Scarpino-Myers V, Eagle RC Jr, Hodes B, Harris H (1986) Cataracts in patients heterozygous for galactokinase deficiency. Invest Ophthalmol vis Sci 27:429\u2013433","journal-title":"Invest Ophthalmol vis Sci"},{"key":"2052_CR21","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1136\/bjo.73.1.48","volume":"73","author":"RE Stevens","year":"1989","unstructured":"Stevens RE, Datiles MB, Srivastava SK, Ansari NH, Maumenee AE, Stark WJ (1989) Idiopathic presenile cataract formation and galactosaemia. Br J Ophthalmol 73:48\u201351","journal-title":"Br J Ophthalmol"},{"key":"2052_CR22","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1038\/ejhg.2013.162","volume":"22","author":"S Thomas","year":"2014","unstructured":"Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I (2014) Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation. Eur J Hum Genet 22:344\u2013349","journal-title":"Eur J Hum Genet"},{"key":"2052_CR23","doi-asserted-by":"publisher","first-page":"1701","DOI":"10.1002\/jcc.20291","volume":"26","author":"D Van Der Spoel","year":"2005","unstructured":"Van Der Spoel D, Lindahl E, Hess B, Groenhof G, Mark AE, Berendsen HJ (2005) GROMACS: fast, flexible, and free. J Comput Chem 26:1701\u20131718","journal-title":"J Comput Chem"},{"key":"2052_CR24","doi-asserted-by":"publisher","first-page":"e70336","DOI":"10.1371\/journal.pone.0070336","volume":"8","author":"VP Vendra","year":"2013","unstructured":"Vendra VP, Agarwal G, Chandani S, Talla V, Srinivasan N, Balasubramanian D (2013) Structural integrity of the Greek key motif in \u03b2\u03b3-crystallins is vital for central eye lens transparency. PLoS ONE 8:e70336","journal-title":"PLoS ONE"},{"key":"2052_CR25","doi-asserted-by":"publisher","first-page":"e164","DOI":"10.1093\/nar\/gkq603","volume":"38","author":"K Wang","year":"2010","unstructured":"Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164","journal-title":"Nucleic Acids Res"},{"key":"2052_CR26","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1038\/s10038-019-0608-2","volume":"64","author":"H Yi","year":"2019","unstructured":"Yi H, Zha X, Zhu Y, Lv J, Hu S, Kong Y, Wu G, Yang Y, He Y (2019) A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family. J Hum Genet 64:681\u2013687","journal-title":"J Hum Genet"},{"key":"2052_CR27","doi-asserted-by":"publisher","first-page":"1219","DOI":"10.1038\/s41598-017-01182-9","volume":"7","author":"Y Zhai","year":"2017","unstructured":"Zhai Y, Li J, Yu W, Zhu S, Yu Y, Wu M, Sun G, Gong X, Yao K (2017) Targeted exome sequencing of congenital cataracts related genes: broadening the mutation spectrum and genotype-phenotype correlations in 27 Chinese Han families. Sci Rep 7:1219","journal-title":"Sci Rep"}],"container-title":["Molecular Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-023-02052-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00438-023-02052-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00438-023-02052-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,22]],"date-time":"2023-07-22T12:06:47Z","timestamp":1690027607000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00438-023-02052-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,12]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["2052"],"URL":"https:\/\/doi.org\/10.1007\/s00438-023-02052-y","relation":{},"ISSN":["1617-4615","1617-4623"],"issn-type":[{"value":"1617-4615","type":"print"},{"value":"1617-4623","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,12]]},"assertion":[{"value":"12 January 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 June 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 July 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All authors declare that they have no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"The current study was approved by the Institutional Review Boards of the 2nd Affiliated Hospital of Kunming Medical University. Written informed consents were obtained from all investigated individuals prior to the study. Before enrollment, the patients or their guardians gave informed consent.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical consideration"}}]}}