{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T18:45:44Z","timestamp":1761417944865,"version":"3.41.2"},"reference-count":16,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,8,18]],"date-time":"2021-08-18T00:00:00Z","timestamp":1629244800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Stickler syndrome is a group of connective tissue disorders that can affect eye (myopia, cataract, and retinal detachment), skeleton (spondyloepiphyseal dysplasia and precocious arthritis), craniofacies (midfacial under development and cleft palate), and inner ear (conductive and sensorineural); with the degree of symptoms varying among patients. Mutations in the <jats:italic>COL2A1<\/jats:italic>, <jats:italic>COL11A1<\/jats:italic>, <jats:italic>COL11A2<\/jats:italic>, <jats:italic>COL9A1<\/jats:italic>, <jats:italic>COL9A2<\/jats:italic>, and <jats:italic>COL9A3<\/jats:italic> procollagen genes cause Stickler syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>A 16\u2010year\u2010old Mongolian girl approached our clinics with retinal detachment. The proband had vitreous degeneration in both eyes, rhegmatogenous retinal detachment in her right eye, a large area of retina degeneration in her left eye, and coupled with severe myopia. No obvious hearing disorder was found, no abnormalities in bones and joints, and her communication and learning capability were also normal. Further clinical examination showed that the patient's other five family members across three generations had vitreous and retina degenerations. Exome sequencing showed a heterozygous splicing variant in <jats:italic>COL2A1<\/jats:italic> in all patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In this case report, a pathogenic splicing variant in the <jats:italic>COL2A1<\/jats:italic> gene was identified in a Mongolian family affected with Stickler syndrome type I by exome sequencing. This heterozygous splicing variant in <jats:italic>COL2A1<\/jats:italic> (NM_001844.4:C.2518\u20101G&gt;A) that may impair splicing, which was suggested by in silico prediction. Next\u2010generation sequencing is helpful for the differential diagnosis of this clinically variable and genetically heterogeneous disorder.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1781","type":"journal-article","created":{"date-parts":[[2021,8,18]],"date-time":"2021-08-18T08:58:56Z","timestamp":1629277136000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic <i>COL2A1<\/i> variant in a Mongolia family"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7373-860X","authenticated-orcid":false,"given":"Hong","family":"Wu","sequence":"first","affiliation":[{"name":"Eye Center of the Second Hospital Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Songtian","family":"Che","sequence":"additional","affiliation":[{"name":"Eye Center of the Second Hospital Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuchun","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pain the Second Hospital of Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Cheng","sequence":"additional","affiliation":[{"name":"Eye Center of the Second Hospital Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Xiao","sequence":"additional","affiliation":[{"name":"Eye Center of the Second Hospital Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zaoxia","family":"Liu","sequence":"additional","affiliation":[{"name":"Eye Center of the Second Hospital Jilin University Changchun China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-007-0609-2"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2007.03.059"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22915"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36165"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.40647"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.23"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36681"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts280"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.eye.6700195"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2011.201"},{"key":"e_1_2_9_12_1","first-page":"433","article-title":"Hereditary progressive arthro\u2010ophthalmopathy","volume":"40","author":"Stickler G. B.","year":"1965","journal-title":"Mayo Clinic Proceedings"},{"key":"e_1_2_9_13_1","first-page":"697","article-title":"Mutation survey and genotype\u2010phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome","volume":"22","author":"Wang X.","year":"2016","journal-title":"Molecular Vision"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960614)63:3<461::AID-AJMG9>3.0.CO;2-U"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1254806"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0730-6"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420316"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1781","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1781","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1781","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T12:38:32Z","timestamp":1693226312000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1781"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,18]]},"references-count":16,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2021,10]]}},"alternative-id":["10.1002\/mgg3.1781"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1781","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2021,8,18]]},"assertion":[{"value":"2021-03-24","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1781"}}