{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:31Z","timestamp":1753869691104,"version":"3.41.2"},"reference-count":9,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,7,23]],"date-time":"2020-07-23T00:00:00Z","timestamp":1595462400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"The natural science foundation guiding plan of Liaoning province","award":["20170540492","20180551240","20180551252"],"award-info":[{"award-number":["20170540492","20180551240","20180551252"]}]},{"name":"Social development and industrialization in Liaoning province","award":["2017225019"],"award-info":[{"award-number":["2017225019"]}]},{"name":"Shenyang science and technology planning project","award":["18-014-4-53"],"award-info":[{"award-number":["18-014-4-53"]}]},{"name":"The doctor starting fund of Liaoning province","award":["201601386"],"award-info":[{"award-number":["201601386"]}]},{"name":"Training discipline project of China Medical University: clinical genetic","award":["3110118049"],"award-info":[{"award-number":["3110118049"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study aimed to identify the disease\u2010causing mutation of congenital cataract disease in a large northeastern Chinese family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>The subjects\u2019 peripheral blood was collected, their genomic DNA was extracted, mutation screening of candidate genes was performed using polymerase chain reaction, and the amplified products were sequenced. Recombinant C\u2010terminal enhanced green fluorescent protein\u2010tagged wild\u2010type or mutant CRYGD was expressed in HEK293T cells, and the expression pattern was observed under a fluorescence microscope. The CRYGD protein mutation was analyzed via bioinformatics analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>c.475delG, a novel frameshift mutation in <jats:italic>CRYGD<\/jats:italic>, was identified in the affected family members. This mutation causes premature termination of the polypeptide, resulting in truncated p.(Ala159ProfsTer9). According to the bioinformatics analysis results, compared with wild\u2010type CRYGD, p.(Ala159ProfsTer9) exhibits significantly decreased hydrophilicity. Fluorescence microscopy revealed that p.(Ala159ProfsTer9) aggregates in the cell in the form of granular deposits.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this study, the novel frameshift mutation c.475delG, p.(Ala159ProfsTer9) in <jats:italic>CRYGD<\/jats:italic> was identified to cause congenital cataracts in a large Chinese family; increased hydrophobicity of p.(Ala159ProfsTer9) protein may be the underlying mechanism.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1436","type":"journal-article","created":{"date-parts":[[2020,7,24]],"date-time":"2020-07-24T01:15:20Z","timestamp":1595553320000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Increased hydrophobicity of CRYGD p.(Ala159ProfsTer9): Suspected cause of congenital cataracts in a large Chinese family"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4567-3765","authenticated-orcid":false,"given":"Meina","family":"Lin","sequence":"first","affiliation":[{"name":"NHC Key Laboratory of Reproductive Health and Medical Genetics Liaoning Research Institute of Family Planning The Affiliated Reproductive Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Jin","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Reproductive Health and Medical Genetics Liaoning Research Institute of Family Planning The Affiliated Reproductive Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinren","family":"Chen","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Reproductive Health and Medical Genetics Liaoning Research Institute of Family Planning The Affiliated Reproductive Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Sui","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Reproductive Health and Medical Genetics Liaoning Research Institute of Family Planning The Affiliated Reproductive Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Li","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Reproductive Health and Medical Genetics Liaoning Research Institute of Family Planning The Affiliated Reproductive Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huan","family":"Li","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Reproductive Health and Medical Genetics Liaoning Research Institute of Family Planning The Affiliated Reproductive Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang","family":"Ni","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Reproductive Health and Medical Genetics Liaoning Research Institute of Family Planning The Affiliated Reproductive Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Zhao","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Reproductive Health and Medical Genetics Liaoning Research Institute of Family Planning The Affiliated Reproductive Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongping","family":"Lu","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Reproductive Health and Medical Genetics Liaoning Research Institute of Family Planning The Affiliated Reproductive Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miao","family":"Jiang","sequence":"additional","affiliation":[{"name":"NHC Key Laboratory of Reproductive Health and Medical Genetics Liaoning Research Institute of Family Planning The Affiliated Reproductive Hospital of China Medical University Shenyang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,7,23]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2011.07.058"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(03)00375-9"},{"key":"e_1_2_8_4_1","first-page":"684","article-title":"A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family","volume":"10","author":"Cui X. 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