{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T14:09:48Z","timestamp":1764079788194,"version":"3.41.2"},"reference-count":49,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,5,27]],"date-time":"2022-05-27T00:00:00Z","timestamp":1653609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of Hunan Province","doi-asserted-by":"publisher","award":["2020JJ8076 2020JJ8005"],"award-info":[{"award-number":["2020JJ8076 2020JJ8005"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Congenital cataract is one of the most common causes of blindness in children. A rapid and accurate genetic diagnosis benefit the patients in the pediatric department. The current study aims to identify the genetic defects in a congenital cataract patient without a family history.<\/jats:p><jats:p><jats:bold>Case presentation:<\/jats:bold> A congenital cataract patient with microphthalmia and nystagmus was recruited for this study. Trio-based whole-exome sequencing revealed a <jats:italic>de novo<\/jats:italic> variant (c.394delG, p.V132Sfs*15) in <jats:italic>CRYGC<\/jats:italic> gene. According to the American College of Medical Genetics and Genomics (ACMG) criteria, the variant could be annontated as pathogenic.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> Our findings provide new knowledge of the variant spectrum of <jats:italic>CRYGC<\/jats:italic> gene and are essential for understanding the heterogeneity of cataracts in the Chinese population.<\/jats:p>","DOI":"10.3389\/fgene.2022.866246","type":"journal-article","created":{"date-parts":[[2022,6,1]],"date-time":"2022-06-01T14:40:54Z","timestamp":1654094454000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Case Report: A de novo Variant of CRYGC Gene Associated With Congenital Cataract and Microphthalmia"],"prefix":"10.3389","volume":"13","author":[{"given":"Yu","family":"Peng","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zifeng","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuju","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yilan","family":"Tan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhengmao","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijuan","family":"Tao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulin","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,5,27]]},"reference":[{"key":"B1","first-page":"2931","article-title":"Novel Crystallin Gamma B Mutations in a Kuwaiti Family with Autosomal Dominant Congenital Cataracts Reveal Genetic and Clinical Heterogeneity","volume":"18","author":"AlFadhli","year":"2012","journal-title":"Mol. 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