{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T03:40:47Z","timestamp":1777952447454,"version":"3.51.4"},"reference-count":36,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,12,19]],"date-time":"2019-12-19T00:00:00Z","timestamp":1576713600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["16ek0109166h0002"],"award-info":[{"award-number":["16ek0109166h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>COL2A1<\/jats:italic> gene encodes the alpha\u20101 chain of procollagen type 2. Pathogenic variants in the <jats:italic>COL2A1<\/jats:italic> gene are associated with several different types of skeletal dysplasia collectively known as type 2 collagenopathies. Type 2 collagenopathies have an autosomal dominant inheritance. Some germline or somatogonadal mosaicism cases have been reported. We investigated whether somatogonadal mosaicism occurred in a family with two children suspected of type 2 collagenopathies or related diseases. First, we detected a pathogenic variant in the <jats:italic>COL2A1<\/jats:italic> gene in the two affected children by whole exome sequencing (WES). Next, we performed targeted deep sequencing to their parents without the variant by WES. A low level of <jats:italic>COL2A1<\/jats:italic> mosaicism was revealed in the mother's tissues. We concluded that the mother had somatogonadal mosaicism with the <jats:italic>COL2A1<\/jats:italic> mutation arose in the epiblast, and that the intrafamilial recurrence rate of the disease by the somatogonadal mosaicism was higher than by the germline mosaicism. This report suggests that parental low\u2010level mosaicism should be evaluated in those parents with children carrying de novo germline mutations and the targeted deep sequencing is useful to detect them.<\/jats:p>","DOI":"10.1002\/ajmg.a.61422","type":"journal-article","created":{"date-parts":[[2019,12,19]],"date-time":"2019-12-19T10:43:16Z","timestamp":1576752196000},"page":"454-460","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Parental somatogonadal <i>COL2A1<\/i> mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9594-7050","authenticated-orcid":false,"given":"Kenichi","family":"Yamamoto","sequence":"first","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"},{"name":"Department of Statistical Genetics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuo","family":"Kubota","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3627-1932","authenticated-orcid":false,"given":"Shinji","family":"Takeyari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taichi","family":"Kitaoka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kei","family":"Miyata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukako","family":"Nakano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirofumi","family":"Nakayama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuhisa","family":"Ohata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kumiko","family":"Yanagi","sequence":"additional","affiliation":[{"name":"Department of Genome Medicine National Center for Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0281-9610","authenticated-orcid":false,"given":"Tadashi","family":"Kaname","sequence":"additional","affiliation":[{"name":"Department of Genome Medicine National Center for Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yukinori","family":"Okada","sequence":"additional","affiliation":[{"name":"Department of Statistical Genetics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keiichi","family":"Ozono","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka University Graduate School of Medicine  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,12,19]]},"reference":[{"issue":"1","key":"e_1_2_8_2_1","first-page":"7.20","article-title":"Predicting functional effect of human missense mutations using PolyPhen\u20102","volume":"7","author":"Adzhubei I.","year":"2013","journal-title":"Current Protocols in Human Genetics"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22915"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3424"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu170"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2015.03.013"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.08.010"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.07.003"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S8756-3282(97)00107-5"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.14218\/ERHM.2017.00010"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.806"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00438-015-1130-7"},{"key":"e_1_2_8_13_1","volume-title":"GeneReviews","author":"Gregersen P. 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