{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T05:12:23Z","timestamp":1773724343625,"version":"3.50.1"},"reference-count":66,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T00:00:00Z","timestamp":1686787200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"State Order of the Ministry of Education and Science of the Russian Federation","award":["122041400169-2"],"award-info":[{"award-number":["122041400169-2"]}]},{"name":"State Order of the Ministry of Education and Science of the Russian Federation","award":["075-15-2021-595"],"award-info":[{"award-number":["075-15-2021-595"]}]},{"name":"a Megagrant of the Government of the Russian Federation","award":["122041400169-2"],"award-info":[{"award-number":["122041400169-2"]}]},{"name":"a Megagrant of the Government of the Russian Federation","award":["075-15-2021-595"],"award-info":[{"award-number":["075-15-2021-595"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>Hereditary cataracts are characterized by significant clinical and genetic heterogeneity, which can pose challenges for early DNA diagnosis. To comprehensively address this problem, it is essential to investigate the epidemiology of the disease, perform population studies to determine the spectrum and frequencies of mutations in the responsible genes, and examine clinical and genetic correlations. Based on modern concepts, non-syndromic hereditary cataracts are predominantly caused by genetic disease forms associated with mutations in crystallin and connexin genes. Therefore, a comprehensive approach to studying hereditary cataracts is necessary for early diagnosis and improved treatment outcomes. The crystallin (CRYAA, CRYAB, CRYGC, CRYGD, and CRYBA1) and connexin (GJA8, GJA3) genes were analyzed in 45 unrelated families from the Volga\u2013Ural Region (VUR) with hereditary congenital cataracts. Pathogenic and probably pathogenic nucleotide variants were identified in ten unrelated families, nine of which had cataracts in an autosomal dominant pattern of inheritance. Two previously undescribed likely pathogenic missense variants were identified in the CRYAA gene: c.253C &gt; T (p.L85F) in one family and c.291C &gt; G (p.H97Q) in two families. The known mutation c.272_274delGAG (p.G91del) was found in the CRYBA1 gene in one family, while no pathogenic variants were found in the CRYAB, CRYGC, or CRYGD genes in the examined patients. In the GJA8 gene, the known mutation c.68G &gt; C (p.R23T) was found in two families, and previously undescribed variants were identified in two other families: a c.133_142del deletion (p.W45Sfs*72) and a missense variant, c.179G &gt; A (p.G60D). In one patient with a recessive form of cataract, two compound-heterozygous variants were identified\u2014a previously undescribed likely pathogenic missense variant, c.143A &gt; G (p.E48G), and a known variant with uncertain pathogenetic significance, c.741T &gt; G (p.I24M). Additionally, a previously undescribed deletion, c.del1126_1139 (p.D376Qfs*69), was identified in the GJA3 gene in one family. In all families where mutations were identified, cataracts were diagnosed either immediately after birth or during the first year of life. The clinical presentation of the cataracts varied depending on the type of lens opacity, resulting in various clinical forms. This information emphasizes the importance of early diagnosis and genetic testing for hereditary congenital cataracts to guide appropriate management and improve outcomes.<\/jats:p>","DOI":"10.3390\/cimb45060327","type":"journal-article","created":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T03:18:46Z","timestamp":1686799126000},"page":"5145-5163","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga\u2013Ural Region"],"prefix":"10.3390","volume":"45","author":[{"given":"Irina","family":"Khidiyatova","sequence":"first","affiliation":[{"name":"Institute of Biochemistry and Genetics\u2014Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia"},{"name":"Department of Biology, Bashkir State University, 450076 Ufa, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Indira","family":"Khidiyatova","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Genetics\u2014Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3586-3458","authenticated-orcid":false,"given":"Rena","family":"Zinchenko","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0972-5118","authenticated-orcid":false,"given":"Andrey","family":"Marakhonov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 115522 Moscow, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2570-0789","authenticated-orcid":false,"given":"Alexandra","family":"Karunas","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Genetics\u2014Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia"},{"name":"Medical Faculty, Bashkir State Medical University, 450000 Ufa, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana","family":"Avkhadeeva","sequence":"additional","affiliation":[{"name":"Medical Faculty, Bashkir State Medical University, 450000 Ufa, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marat","family":"Aznzbaev","sequence":"additional","affiliation":[{"name":"Medical Faculty, Bashkir State Medical University, 450000 Ufa, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2987-3334","authenticated-orcid":false,"given":"Elza","family":"Khusnutdinova","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry and Genetics\u2014Subdivision of the Ufa Federal Research Centre of the Russian Academy of Sciences, 450054 Ufa, Russia"},{"name":"Department of Biology, Bashkir State University, 450076 Ufa, Russia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,6,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1136\/jmg.37.7.481","article-title":"The genetics of childhood cataract","volume":"37","author":"Francis","year":"2000","journal-title":"J. Med. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Li, D., Jing, Q., and Jiang, Y. (2019). The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts. BMC Med. Genet., 20.","DOI":"10.1186\/s12881-019-0882-z"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1146\/annurev.bi.65.070196.002355","article-title":"Connexins, Connexons, and Intercellular Communication","volume":"65","author":"Goodenough","year":"1996","journal-title":"Annu. Rev. Biochem."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1134\/S1022795409050123","article-title":"Genetic epidemiological study of Bashkortostan Republic: The di-versity of monogenic hereditary diseases in five districts","volume":"45","author":"Zinchenko","year":"2009","journal-title":"Russ. J. Genet."},{"key":"ref_5","first-page":"43","article-title":"Medical-genetic study of the Bash-kortostan Republic. IX. Spectrum and load of a hereditary pathology of the eyes in 8 districts","volume":"11","author":"Khlebnikova","year":"2011","journal-title":"Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1007\/s00417-005-0234-x","article-title":"Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P","volume":"244","author":"Graw","year":"2006","journal-title":"Graefe\u2019s Arch. Clin. Exp. Ophthalmol."},{"key":"ref_7","first-page":"693","article-title":"Mutation screening and genotype phenotype correlation of \u03b1-crystallin, \u03b3-crystalline and GJA8 gene in congenital cataract","volume":"17","author":"Kumar","year":"2011","journal-title":"Mol. Vis."},{"key":"ref_8","first-page":"1070","article-title":"A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family","volume":"17","author":"Yang","year":"2011","journal-title":"Mol. Vis."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1111\/cge.12182","article-title":"Genetics of human cataract","volume":"84","author":"Shiels","year":"2013","journal-title":"Clin. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"e124","DOI":"10.1136\/jmg.40.11.e124","article-title":"A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract","volume":"40","author":"Willoughby","year":"2003","journal-title":"J. Med. Genet."},{"key":"ref_12","first-page":"400","article-title":"Transmission g\u00e9n\u00e9tique de la cataracte cong\u00e9nitale [The genetics of hereditary cataract]","volume":"26","author":"Beby","year":"2003","journal-title":"J. Fr. Ophtalmol."},{"key":"ref_13","first-page":"2436","article-title":"Molecular and structural analysis of genetic variations in congenital cataract","volume":"19","author":"Kumar","year":"2013","journal-title":"Mol. Vis."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Raju, I., and Abraham, E.C. (2011). Congenital Cataract Causing Mutants of \u03b1A-Crystallin\/sHSP Form Aggregates and Aggresomes Degraded through Ubiquitin-Proteasome Pathway. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0028085"},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Raju, I., Oonthonpan, L., and Abraham, E.C. (2012). Mutations in Human \u03b1A-Crystallin\/sHSP Affect Subunit Exchange Interaction with \u03b1B-Crystallin. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0031421"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"10449","DOI":"10.1073\/pnas.89.21.10449","article-title":"Alpha-crystallin can function as a molecular chaperone","volume":"89","author":"Horwitz","year":"1992","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/S0014-4835(02)00278-6","article-title":"Alpha-crystallin","volume":"76","author":"Horwitz","year":"2003","journal-title":"Exp. Eye Res."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"887","DOI":"10.2174\/156652409789105598","article-title":"Effects of Alpha-Crystallin on Lens Cell Function and Cataract Pathology","volume":"9","author":"Andley","year":"2009","journal-title":"Curr. Mol. Med."},{"key":"ref_19","first-page":"1874","article-title":"A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree","volume":"18","author":"Guo","year":"2012","journal-title":"Mol. Vis."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1016\/j.survophthal.2004.02.013","article-title":"Molecular genetic basis of inherited cataract and associated phenotypes","volume":"49","author":"Reddy","year":"2004","journal-title":"Surv. Ophthalmol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1007\/s00439-003-1049-7","article-title":"A deletion mutation in the betaA1\/A3 crystallin gene (CRYBA1\/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family","volume":"114","author":"Qi","year":"2004","journal-title":"Hum. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/0014-5793(75)80286-9","article-title":"The amino acid sequence of the A chain of human \u03b1-crystallin","volume":"58","author":"Terwindt","year":"1975","journal-title":"FEBS Lett."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/0014-5793(85)81102-9","article-title":"Domain structure and evolution in \u03b1-crystallins and small heat-shock proteins","volume":"181","author":"Wistow","year":"1985","journal-title":"FEBS Lett."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1110\/ps.041152805","article-title":"Insights into the domains required for dimerization and assembly of human alpha B crystalline","volume":"14","author":"Ghosh","year":"2005","journal-title":"Protein. Sci."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"9951","DOI":"10.1021\/bi9712347","article-title":"Structure and function of the conserved domain in alphaA-crystallin. Site directed spin labeling identifies a beta-strand located near a subunit interface","volume":"36","author":"Berengian","year":"1997","journal-title":"Biochemistry"},{"key":"ref_26","first-page":"1157","article-title":"Crystallin gene mutations in Indian families with inherited pediatric cataract","volume":"14","author":"Devi","year":"2008","journal-title":"Mol. Vis."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"3937","DOI":"10.1167\/iovs.07-0013","article-title":"Genetic Heterogeneity in Microcornea-Cataract: Five Novel Mutations inCRYAA,CRYGD, andGJA8","volume":"48","author":"Hansen","year":"2007","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1038\/sj.ejhg.5201046","article-title":"Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q","volume":"11","author":"Mackay","year":"2003","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_29","first-page":"768","article-title":"Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family","volume":"12","author":"Santhiya","year":"2006","journal-title":"Mol. Vis."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1093\/hmg\/7.3.471","article-title":"Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA","volume":"7","author":"Litt","year":"1998","journal-title":"Hum. Mol. Genet."},{"key":"ref_31","first-page":"3511","article-title":"A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family","volume":"41","author":"Pras","year":"2000","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_32","first-page":"21","article-title":"Identification of a missense mutation in the \u03b1A-crystallin gene of the lop18 mouse","volume":"5","author":"Chang","year":"1999","journal-title":"Mol. Vis."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1016\/j.ajo.2007.08.005","article-title":"Recessive Congenital Total Cataract with Microcornea and Heterozygote Carrier Signs Caused by a Novel Missense CRYAA Mutation (R54C)","volume":"144","author":"Khan","year":"2007","journal-title":"Am. J. Ophthalmol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/ng0992-42","article-title":"A frameshift mutation in the gamma-E-crystallin gene of the Elo mouse","volume":"2","author":"Cartier","year":"1992","journal-title":"Nat. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1073\/pnas.94.3.884","article-title":"Targeted disruption of the mouse alpha A-crystallin gene induces cataract and cytoplasmic inclusion bodies containing the small heat shock protein alpha B-crystallin","volume":"94","author":"Brady","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_36","first-page":"518","article-title":"A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family","volume":"12","author":"Vanita","year":"2006","journal-title":"Mol. Vis."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1186\/s13023-020-01484-8","article-title":"Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis","volume":"15","author":"Marakhonov","year":"2020","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_38","first-page":"1154","article-title":"Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations","volume":"13","author":"Lu","year":"2007","journal-title":"Mol. Vis."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.1167\/iovs.03-0760","article-title":"CRYBA3\/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: A novel phenotype","volume":"45","author":"Ferrini","year":"2004","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_40","first-page":"778","article-title":"Identification of a de novo 3bp deletion in CRYBA1\/A3 Gene in autosomal dominant congenital cataract","volume":"54","author":"Mohebi","year":"2016","journal-title":"Acta Med. Iran."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1186\/s13023-016-0505-0","article-title":"The role of small in-frame insertions\/deletions in inherited eye disorders and how structural modelling can help estimate their pathogenicity","volume":"11","author":"Sergouniotis","year":"2016","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_42","first-page":"422","article-title":"Epidemiology and molecular genetics of congenital cataracts","volume":"4","author":"Yi","year":"2011","journal-title":"Int. J. Ophthalmol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"2549","DOI":"10.1167\/iovs.07-1658","article-title":"Cataracts Are Caused by Alterations of a Critical N-Terminal Positive Charge in Connexin50","volume":"49","author":"Thomas","year":"2008","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"673895","DOI":"10.1155\/2014\/673895","article-title":"Structure-Function Correlation Analysis of Connexin50 Missense Mutations Causing Congenital Cataract: Electrostatic Potential Alteration Could Determine Intracellular Trafficking Fate of Mutants","volume":"2014","author":"Sarkar","year":"2014","journal-title":"BioMed Res. Int."},{"key":"ref_45","first-page":"323","article-title":"A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin","volume":"14","author":"Vanita","year":"2008","journal-title":"Mol. Vis."},{"key":"ref_46","first-page":"190","article-title":"Novel mutations in GJA8 associated with autosomal dominant congenital cataract and micro-cornea","volume":"12","author":"Devi","year":"2006","journal-title":"Mol. Vis."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.1136\/bjo.2005.075184","article-title":"Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract","volume":"89","author":"Ma","year":"2005","journal-title":"Br. J. Ophthalmol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"3820","DOI":"10.1073\/pnas.89.9.3820","article-title":"A domain substitution procedure and its use to analyze voltage dependence of homotypic gap junctions formed by connexins 26 and 32","volume":"89","author":"Rubin","year":"1992","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1007\/s004399900094","article-title":"Connexin 50 mutation in a family with congenital \u201czonular nuclear\u201d pulverulent cataract of Pakistani origin","volume":"105","author":"Berry","year":"1999","journal-title":"Hum. Genet."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1242\/jcs.034124","article-title":"Connexin mutation that causes dominant congenital cataracts inhibits gap junctions, but not hemichannels, in a dominant negative manner","volume":"122","author":"Banks","year":"2009","journal-title":"J. Cell Sci."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"476","DOI":"10.1034\/j.1399-0004.2001.600614.x","article-title":"Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract","volume":"60","author":"Polyakov","year":"2001","journal-title":"Clin. Genet."},{"key":"ref_52","first-page":"1881","article-title":"The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation","volume":"15","author":"Graw","year":"2009","journal-title":"Mol. Vis."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1007\/s00232-001-0139-5","article-title":"Functional Role of the Carboxyl Terminal Domain of Human Connexin 50 in Gap Junctional Channels","volume":"186","author":"Xu","year":"2002","journal-title":"J. Membr. Biol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"4474","DOI":"10.1167\/iovs.05-1582","article-title":"Functional Characterization of a Naturally Occurring Cx50 Truncation","volume":"47","author":"DeRosa","year":"2006","journal-title":"Investig. Opthalmol. Vis. Sci."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.ejmg.2010.07.001","article-title":"Molecular characteristics of inherited congenital cataracts","volume":"53","author":"Huang","year":"2010","journal-title":"Eur. J. Med. Genet."},{"key":"ref_56","first-page":"968","article-title":"A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract","volume":"18","author":"Wang","year":"2012","journal-title":"Mol. Vis."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1016\/S0248-4900(02)00014-X","article-title":"Connexins, gap junctional intercellular communication and kinases","volume":"94","author":"Cruciani","year":"2002","journal-title":"Biol. Cell"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1016\/j.ceb.2007.09.001","article-title":"Gap junction channel structure in the early 21st century: Facts and fantasies","volume":"19","author":"Yeager","year":"2007","journal-title":"Curr. Opin. Cell Biol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1086\/302383","article-title":"Connexin46 Mutations in Autosomal Dominant Congenital Cataract","volume":"64","author":"Mackay","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"596","DOI":"10.1152\/ajpcell.2000.279.3.C596","article-title":"Connexin46 mutations linked to congenital cataract show loss of gap junction channel function","volume":"279","author":"Pal","year":"2000","journal-title":"Am. J. Physiol. Physiol."},{"key":"ref_61","first-page":"789","article-title":"A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family","volume":"19","author":"Zhou","year":"2013","journal-title":"Mol. Vis."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.semcdb.2007.10.003","article-title":"Congenital cataracts and their molecular genetics","volume":"19","author":"Hejtmancik","year":"2008","journal-title":"Semin. Cell Dev. Biol."},{"key":"ref_63","first-page":"203","article-title":"Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family","volume":"18","author":"Zhang","year":"2012","journal-title":"Mol. Vis."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/j.ejmg.2013.12.006","article-title":"Molecular genetics of congenital nuclear cataract","volume":"57","author":"Deng","year":"2014","journal-title":"Eur. J. Med. Genet."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.3109\/02713683.2014.997885","article-title":"Mutation Analysis in Chinese Families with Autosomal Dominant Hereditary Cataracts","volume":"40","author":"Yang","year":"2014","journal-title":"Curr. Eye Res."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1097\/OPX.0000000000000518","article-title":"Identification of a Novel GJA3 Mutation in Congenital Nuclear Cataract","volume":"92","author":"Yuan","year":"2015","journal-title":"Optom. Vis. Sci."}],"container-title":["Current Issues in Molecular Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1467-3045\/45\/6\/327\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T19:55:22Z","timestamp":1760126122000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1467-3045\/45\/6\/327"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,15]]},"references-count":66,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2023,6]]}},"alternative-id":["cimb45060327"],"URL":"https:\/\/doi.org\/10.3390\/cimb45060327","relation":{},"ISSN":["1467-3045"],"issn-type":[{"value":"1467-3045","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,15]]}}}