{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T13:10:08Z","timestamp":1778245808331,"version":"3.51.4"},"reference-count":31,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:00:00Z","timestamp":1778198400000},"content-version":"vor","delay-in-days":127,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100018623","name":"Quanzhou City Science and Technology Program","doi-asserted-by":"publisher","award":["2025QZC37R"],"award-info":[{"award-number":["2025QZC37R"]}],"id":[{"id":"10.13039\/501100018623","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100018623","name":"Quanzhou City Science and Technology Program","doi-asserted-by":"publisher","award":["2023NS068"],"award-info":[{"award-number":["2023NS068"]}],"id":[{"id":"10.13039\/501100018623","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Genetic variants are the leading cause of congenital cataract (CC). To date, numerous genes have been implicated in the development of CC. The objective of the present study was to report two previously unrecognized gene variants associated with CC in two unrelated Chinese families, identified through whole exome sequencing (WES).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Two unrelated Chinese families affected by CC were recruited. Cytogenetic and molecular genetic analyses were performed using karyotyping, chromosomal microarray analysis (CMA), and WES. In addition, RNA sequencing was conducted to assess differentially expressed genes in affected individuals compared with healthy controls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Karyotype and CMA elicited none of chromosome abnormalities in both of the families. However, WES revealed a novel missense variant NM_006891.4:c.154\u2009T\u2009&gt;\u2009C(p.S52P) in the\n                      <jats:italic>CRYGD<\/jats:italic>\n                      gene in the proband of Family 1, which was inherited from her mother with CC. In Family 2, a novel frameshift variant NM_000276.4:c.1046dup(p.M349Ifs\u221736) in the\n                      <jats:italic>OCRL<\/jats:italic>\n                      gene was identified in the fetus via WES, which was inherited from the mother who had CC. RNA sequencing further demonstrated significantly reduced\n                      <jats:italic>OCRL<\/jats:italic>\n                      mRNA expression in the fetus compared with age\u2010matched controls.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The present study reports, for the first time, two novel variants in\n                      <jats:italic>CRYGD<\/jats:italic>\n                      and\n                      <jats:italic>OCRL<\/jats:italic>\n                      that were identified in the Chinese families with CC. These findings may expand the mutational spectrum of CC and highlight the utility of WES for the genetic diagnosis of patients with CC.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/humu\/3884362","type":"journal-article","created":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T12:16:01Z","timestamp":1778242561000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of Two Novel Variants in\n                    <i>CRYGD<\/i>\n                    and\n                    <i>OCRL<\/i>\n                    Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome Sequencing"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8087-205X","authenticated-orcid":false,"given":"Jianlong","family":"Zhuang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu\u2032e","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haijuan","family":"Lou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junyu","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-8542-5491","authenticated-orcid":false,"given":"Wanyu","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8906-3184","authenticated-orcid":false,"given":"Chunnuan","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,5,8]]},"reference":[{"key":"e_1_2_13_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2019.107872"},{"key":"e_1_2_13_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2019-315282"},{"key":"e_1_2_13_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/srep28564"},{"key":"e_1_2_13_4_2","doi-asserted-by":"publisher","DOI":"10.1159\/000442495"},{"key":"e_1_2_13_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.12.006"},{"key":"e_1_2_13_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-023-00492-6"},{"key":"e_1_2_13_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.07.001"},{"key":"e_1_2_13_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0731-7"},{"key":"e_1_2_13_9_2","first-page":"457","article-title":"Expert Consensus on the Application of Prenatal Exome Sequencing for Fetal Structural Anomalies","volume":"39","author":"Application Collaboration Group Of Whole Exome Sequencing In Prenatal Diagnosis","year":"2022","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"e_1_2_13_10_2","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2023.13008"},{"key":"e_1_2_13_11_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12886-025-03920-4"},{"key":"e_1_2_13_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-019-0461-1"},{"key":"e_1_2_13_13_2","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn511374-20210304-00184"},{"key":"e_1_2_13_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01150-9"},{"key":"e_1_2_13_15_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-023-01433-x"},{"key":"e_1_2_13_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_13_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pbiomolbio.2003.11.012"},{"key":"e_1_2_13_18_2","doi-asserted-by":"publisher","DOI":"10.18240\/ijo.2021.06.03"},{"key":"e_1_2_13_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2196"},{"key":"e_1_2_13_20_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.07-1114"},{"key":"e_1_2_13_21_2","first-page":"155","article-title":"A Missense Mutation in the GammaD Crystallin Gene (CRYGD) Associated With Autosomal Dominant \u201cCoral-Like\u201d Cataract Linked to Chromosome 2q","volume":"10","author":"Mackay D. 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