{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,26]],"date-time":"2026-07-26T15:02:28Z","timestamp":1785078148587,"version":"3.55.0"},"reference-count":68,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T00:00:00Z","timestamp":1782432000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T00:00:00Z","timestamp":1782432000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100009086","name":"Medical University Sofia","doi-asserted-by":"publisher","award":["D\u2010111\/04.06.2021"],"award-info":[{"award-number":["D\u2010111\/04.06.2021"]}],"id":[{"id":"10.13039\/100009086","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009002","name":"Ministry of Education and Science","doi-asserted-by":"publisher","award":["D\u2010285\/2019"],"award-info":[{"award-number":["D\u2010285\/2019"]}],"id":[{"id":"10.13039\/100009002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009002","name":"Ministry of Education and Science","doi-asserted-by":"publisher","award":["D\u2010395\u20102020"],"award-info":[{"award-number":["D\u2010395\u20102020"]}],"id":[{"id":"10.13039\/100009002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009002","name":"Ministry of Education and Science","doi-asserted-by":"publisher","award":["D01\u2010371\/2023"],"award-info":[{"award-number":["D01\u2010371\/2023"]}],"id":[{"id":"10.13039\/100009002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009002","name":"Ministry of Education and Science","doi-asserted-by":"publisher","award":["D01\u2010257\/2025"],"award-info":[{"award-number":["D01\u2010257\/2025"]}],"id":[{"id":"10.13039\/100009002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009002","name":"Ministry of Education and Science","doi-asserted-by":"publisher","award":["D01\u2010147\/2025"],"award-info":[{"award-number":["D01\u2010147\/2025"]}],"id":[{"id":"10.13039\/100009002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Inherited forms of cataract are a clinically important and genetically heterogeneous cause of visual impairment, usually present at an early age. Both syndromic and non\u2010syndromic congenital cataracts exhibit all modes of inheritance and may occur in association with various ocular or systemic abnormalities. Early diagnosis and treatment are crucial for the visual prognosis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We applied next\u2010generation sequencing (NGS) of clinical exome for identification of the disease\u2010causing variants in a group of seven Bulgarian patients with syndromic and non\u2010syndromic cataracts, accompanied by glaucoma with variable anterior segment defects and other ocular phenotypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Systematic filtering pipelines coupled with copy number variation analysis and segregation studies led to the identification of four pathogenic\/likely pathogenic changes and two variants of uncertain significance (VUS), three of which were newly found. Candidate disease\u2010causing variants in the\n                      <jats:italic>CRYAA, CRYBB1, MYH9, RP2, CLNC1<\/jats:italic>\n                      , and\n                      <jats:italic>CACNA1S<\/jats:italic>\n                      genes were found, which allowed the establishment of a precise genetic diagnosis of all of the studied pedigrees.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our results confirm the usefulness of a targeted NGS approach based on clinical exome analysis as a comprehensive genetic diagnostic tool for syndromic and isolated cataracts with a significant impact on patient counseling.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70255","type":"journal-article","created":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T15:57:44Z","timestamp":1782489464000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-8630-7136","authenticated-orcid":false,"given":"Kristiyana","family":"Vitanova","sequence":"first","affiliation":[{"name":"Genome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty Medical University of Sofia  Sofia Bulgaria"},{"name":"Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty Medical University of Sofia  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunka","family":"Kamenarova","sequence":"additional","affiliation":[{"name":"Genome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty Medical University of Sofia  Sofia Bulgaria"},{"name":"Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty Medical University of Sofia  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nevyana","family":"Veleva\u2010Krasteva","sequence":"additional","affiliation":[{"name":"Clinic of Eye Diseases University Hospital \u201cAleksandrovska\u201d  Sofia Bulgaria"},{"name":"Department of Ophthalmology Medical University  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kalina","family":"Mihova","sequence":"additional","affiliation":[{"name":"Genome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty Medical University of Sofia  Sofia Bulgaria"},{"name":"Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty Medical University of Sofia  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoanna","family":"Kaneva","sequence":"additional","affiliation":[{"name":"Clinic of Eye Diseases University Hospital \u201cAleksandrovska\u201d  Sofia Bulgaria"},{"name":"Department of Ophthalmology Medical University  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reni","family":"Tzveova","sequence":"additional","affiliation":[{"name":"Institute of Experimental Morphology, Pathology, and Anthropology With Museum Bulgarian Academy of Science  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Georgiev","sequence":"additional","affiliation":[{"name":"Genome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty Medical University of Sofia  Sofia Bulgaria"},{"name":"Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty Medical University of Sofia  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delyan","family":"Georgiev","sequence":"additional","affiliation":[{"name":"Genome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty Medical University of Sofia  Sofia Bulgaria"},{"name":"Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty Medical University of Sofia  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivanka","family":"Dimova","sequence":"additional","affiliation":[{"name":"Genome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty Medical University of Sofia  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Oscar","sequence":"additional","affiliation":[{"name":"Clinic of Eye Diseases University Hospital \u201cAleksandrovska\u201d  Sofia Bulgaria"},{"name":"Department of Ophthalmology Medical University  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Radka","family":"Kaneva","sequence":"additional","affiliation":[{"name":"Genome Diagnostics Laboratory, Department of Medical Chemistry and Biochemistry, Medical Faculty Medical University of Sofia  Sofia Bulgaria"},{"name":"Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical Faculty Medical University of Sofia  Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,26]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/2633004020938061"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0104000"},{"key":"e_1_2_11_4_1","unstructured":"BMC Medical Genetics. n.d.A Novel Mutation in the CRYAA Gene Associated With Congenital Cataract and Microphthalmia in a Chinese FamilyAccessed February 24 2025.https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/s12881\u2010018\u20100695\u20105."},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2020.1747092"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep23910"},{"key":"e_1_2_11_7_1","unstructured":"Cat\u2010Map. n.d.Home | Cat\u2010Map | Washington University in St. Louis. Accessed February 24 2025.https:\/\/cat\u2010map.wustl.edu\/."},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm11236877"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.172"},{"key":"e_1_2_11_10_1","unstructured":"CRYBB1. n.d.Gene\u2014GeneCards | CRBB1 Protein | CRBB1 Antibody. Accessed February 24 2025.https:\/\/www.genecards.org\/cgi\u2010bin\/carddisp.pl?gene=CRYBB1."},{"key":"e_1_2_11_11_1","unstructured":"EMBL\u2010EBI.2025.P35579 D25E | ProtVarEMBL\u2010EBI ProtVar. ProtVar\/query?search=P35579+D25E."},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00424\u2010020\u201002368\u20103"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.1993.39"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2004.06.024"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.07\u20100013"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900169"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2007.10.003"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1155\/2020\/6699103"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archophthalmol.2010.122"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.00076"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.743184"},{"key":"e_1_2_11_22_1","first-page":"1167","article-title":"Novel Mutations of PITX3 in Autosomal Dominant Congenital Posterior Polar Cataract","volume":"12","author":"Jin Z.\u2010B.","year":"2006","journal-title":"Molecular Vision"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2017.141"},{"issue":"104","key":"e_1_2_11_24_1","first-page":"88","article-title":"Managing Cataract Surgery in Patients With Glaucoma","volume":"31","author":"Kyari F.","year":"2019","journal-title":"Community Eye Health"},{"issue":"1","key":"e_1_2_11_25_1","first-page":"101","article-title":"Novel Mutations in the CLCN1 Gene of Myotonia Congenita: 2 Case Reports","volume":"86","author":"Lakraj A. A.","year":"2013","journal-title":"Yale Journal of Biology and Medicine"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12886\u2010023\u201002968\u20104"},{"key":"e_1_2_11_27_1","first-page":"589","article-title":"Distribution of Gene Mutations in Sporadic Congenital Cataract in a Han Chinese Population","volume":"22","author":"Li D.","year":"2016","journal-title":"Molecular Vision"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010018\u20100828\u20100"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.3.471"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.760314"},{"key":"e_1_2_11_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2007.05.080"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010018\u201027822\u20102"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010020\u201001484\u20108"},{"key":"e_1_2_11_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/febs.13207"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1159\/000455752"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.55.11.1697"},{"key":"e_1_2_11_37_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000341"},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.32649"},{"key":"e_1_2_11_39_1","unstructured":"OMIM. n.d.\u2010a.Clinical Synopsis Table\u2014#601887 #188580 #620246 #170400. Accessed February 25 2025.https:\/\/omim.org\/clinicalSynopsis\/table?mimNumber=601887 188580 620246 170400."},{"key":"e_1_2_11_40_1","unstructured":"OMIM. n.d.\u2010b.Clinical Synopsis Table\u2013#160800 #255700. Accessed February 25 2025.https:\/\/www.omim.org\/clinicalSynopsis\/table?mimNumber=160800 255700 160800."},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2022.845383"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbapap.2010.01.001"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22476"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12017\u2010015\u20108356\u20108"},{"key":"e_1_2_11_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2006.10.011"},{"key":"e_1_2_11_46_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2004.02.013"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.705832"},{"key":"e_1_2_11_48_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_49_1","doi-asserted-by":"publisher","DOI":"10.1076\/opge.20.3.161.2278"},{"issue":"12","key":"e_1_2_11_50_1","first-page":"5123","article-title":"A Population\u2010Based Epidemiological and Genetic Study of X\u2010Linked Retinitis Pigmentosa","volume":"44","author":"Rosenberg T.","year":"2003","journal-title":"Investigative Ophthalmology & Visual Science"},{"key":"e_1_2_11_51_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes14030608"},{"key":"e_1_2_11_52_1","unstructured":"RP2. n.d.Gene\u2014GeneCards | XRP2 Protein | XRP2 Antibody. Accessed February 24 2025.https:\/\/www.genecards.org\/cgi\u2010bin\/carddisp.pl?gene=RP2&keywords=rp2."},{"key":"e_1_2_11_53_1","unstructured":"RP2 Curation. n.d.RP2 Curation Results for Dosage Sensitivity. Accessed February 25 2025.https:\/\/search.clinicalgenome.org\/kb\/gene\u2010dosage\/HGNC:10274."},{"key":"e_1_2_11_54_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277\u2010010\u20100928\u2010y"},{"key":"e_1_2_11_55_1","doi-asserted-by":"crossref","unstructured":"Seri M. A.Pecci F.Di Bari et\u00a0al.2003.MYH9\u2010Related Disease: May\u2010Hegglin Anomaly Sebastian Syndrome Fechtner Syndrome and Epstein Syndrome Are Not Distinct Entities but Represent a Variable Expression of a Single Illness. Accessed February 24 2025.https:\/\/arts.units.it\/handle\/11368\/1701484.","DOI":"10.1097\/01.md.0000076006.64510.5c"},{"key":"e_1_2_11_56_1","first-page":"2007","article-title":"Cat\u2010Map: Putting Cataract on the Map","volume":"16","author":"Shiels A.","year":"2010","journal-title":"Molecular Vision"},{"key":"e_1_2_11_57_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12182"},{"key":"e_1_2_11_58_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.125.2.165"},{"key":"e_1_2_11_59_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.pmbts.2015.05.004"},{"key":"e_1_2_11_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2016.06.011"},{"key":"e_1_2_11_61_1","unstructured":"SVI. n.d.Sequence Variant Interpretation\u2014ClinGen | Clinical Genome Resource. Accessed April 27 2026.https:\/\/clinicalgenome.org\/working\u2010groups\/sequence\u2010variant\u2010interpretation\/."},{"key":"e_1_2_11_62_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033878"},{"key":"e_1_2_11_63_1","unstructured":"The InterPro Consortium.2025.Myosin N\u2010Terminal SH3\u2010Like (IPR004009). InterPro Database Entry InterPro\/IPR004009."},{"key":"e_1_2_11_64_1","first-page":"518","article-title":"A Novel Fan\u2010Shaped Cataract\u2010Microcornea Syndrome Caused by a Mutation of CRYAA in an Indian Family","volume":"12","author":"Vanita V.","year":"2006","journal-title":"Molecular Vision"},{"key":"e_1_2_11_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21436"},{"key":"e_1_2_11_66_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2023.10.022"},{"key":"e_1_2_11_67_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep44465"},{"key":"e_1_2_11_68_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2015.01.008"},{"key":"e_1_2_11_69_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI66091"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70255","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.70255","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70255","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,26]],"date-time":"2026-07-26T14:50:06Z","timestamp":1785077406000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70255"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,26]]},"references-count":68,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1002\/mgg3.70255"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70255","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,26]]},"assertion":[{"value":"2026-01-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-15","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-26","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70255"}}