{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T07:48:12Z","timestamp":1762674492461,"version":"3.41.2"},"reference-count":32,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2021,8,23]],"date-time":"2021-08-23T00:00:00Z","timestamp":1629676800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/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>The collagen alpha\u20101(X) chain gene (<jats:italic>COL10A1<\/jats:italic>) is a known causative gene for Schmid metaphyseal chondrodysplasia (SMCD). This study clinically examined a Chinese family (<jats:italic>n<\/jats:italic>\u00a0=\u00a042) for SMCD and inheritance pattern. Fifteen individuals were diagnosed with SMCD based on characteristic skeletal phenotypes with autosomal dominant inheritance mode.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Four clinically diagnosed patients and three healthy relatives were selected for subsequent genetic tests. Trio\u2010whole exome sequencing (Trio\u2010WES) followed by Sanger sequencing and familial co\u2010segregation analysis were performed to identify SMCD\u2010associated variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p><jats:italic>COL10A1<\/jats:italic> (NM_000493.4):c.1952 G&gt;T(p.Trp651Leu) variant was detected only in the four patients and not in the three healthy relatives. The variant was evaluated as \u201clikely pathogenic\u201d according to the American College of Medical Genetics and Genomics variation classification guidelines with evidence of PM2, PM5, PP1, and PP3. To test the presence of the target variant in proband's fetal offspring, we developed a noninvasive prenatal testing method by extracting cell\u2010free fetal DNA in maternal plasma followed by high\u2010depth sequencing. The variant was also detected in the fetus and later confirmed by amniocentesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We identified a new disease\u2010causing variant in <jats:italic>COL10A1<\/jats:italic>. Cell\u2010free fetal DNA in maternal peripheral blood can be used as the rapid and noninvasive prenatal diagnostic method to detect the pathogenic\/or likely pathogenic variant.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1758","type":"journal-article","created":{"date-parts":[[2021,8,23]],"date-time":"2021-08-23T07:03:34Z","timestamp":1629702214000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a novel <i>COL10A1<\/i>: c.1952 G&gt;T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6895-2222","authenticated-orcid":false,"given":"Yanchou","family":"Ye","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology The Seventh Affiliated Hospital Sun Yat\u2010sen University Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weihao","family":"Li","sequence":"additional","affiliation":[{"name":"Reproductive Medicine Center The Seventh Affiliated Hospital Sun Yat\u2010sen University Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Third Affiliated Hospital of Sun Yat\u2010sen University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Longsheng","family":"Zhan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Third Affiliated Hospital of Sun Yat\u2010sen University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Junwei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Third Affiliated Hospital of Sun Yat\u2010sen University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tian","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Seventh Affiliated Hospital Sun Yat\u2010sen University Shenzhen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Third Affiliated Hospital of Sun Yat\u2010sen University Guangzhou China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,23]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_10_2_1","DOI":"10.1136\/jmedgenet-2017-104885"},{"doi-asserted-by":"publisher","key":"e_1_2_10_3_1","DOI":"10.1111\/os.12382"},{"doi-asserted-by":"publisher","key":"e_1_2_10_4_1","DOI":"10.1002\/ajmg.a.37365"},{"doi-asserted-by":"publisher","key":"e_1_2_10_5_1","DOI":"10.1172\/JCI1976"},{"doi-asserted-by":"publisher","key":"e_1_2_10_6_1","DOI":"10.1016\/j.tjog.2015.05.002"},{"doi-asserted-by":"publisher","key":"e_1_2_10_7_1","DOI":"10.1136\/bmj.c7401"},{"doi-asserted-by":"publisher","key":"e_1_2_10_8_1","DOI":"10.1002\/ajmg.a.30433"},{"doi-asserted-by":"publisher","key":"e_1_2_10_9_1","DOI":"10.1002\/ajmg.a.20143"},{"doi-asserted-by":"publisher","key":"e_1_2_10_10_1","DOI":"10.1038\/gim.2013.73"},{"doi-asserted-by":"publisher","key":"e_1_2_10_11_1","DOI":"10.1297\/cpe.24.33"},{"doi-asserted-by":"publisher","key":"e_1_2_10_12_1","DOI":"10.1086\/302158"},{"doi-asserted-by":"publisher","key":"e_1_2_10_13_1","DOI":"10.1038\/s41586-020-2308-7"},{"doi-asserted-by":"publisher","key":"e_1_2_10_14_1","DOI":"10.1093\/bioinformatics\/btv024"},{"doi-asserted-by":"publisher","key":"e_1_2_10_15_1","DOI":"10.1093\/nar\/gkt1113"},{"doi-asserted-by":"publisher","key":"e_1_2_10_16_1","DOI":"10.1007\/978-1-4939-8889-1_1"},{"doi-asserted-by":"publisher","key":"e_1_2_10_17_1","DOI":"10.1373\/clinchem.2014.223024"},{"doi-asserted-by":"publisher","key":"e_1_2_10_18_1","DOI":"10.1016\/S0140-6736(97)02174-0"},{"doi-asserted-by":"publisher","key":"e_1_2_10_19_1","DOI":"10.1002\/ajmg.a.30855"},{"doi-asserted-by":"publisher","key":"e_1_2_10_20_1","DOI":"10.1002\/humu.1380050204"},{"doi-asserted-by":"publisher","key":"e_1_2_10_21_1","DOI":"10.1038\/s41436-019-0731-7"},{"doi-asserted-by":"publisher","key":"e_1_2_10_22_1","DOI":"10.1038\/ejhg.2013.47"},{"doi-asserted-by":"publisher","key":"e_1_2_10_23_1","DOI":"10.1006\/bbrc.1995.2890"},{"doi-asserted-by":"publisher","key":"e_1_2_10_24_1","DOI":"10.1038\/gim.2015.30"},{"volume-title":"GeneReviews((R))","year":"1993","author":"Richmond C. 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