{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T16:00:57Z","timestamp":1791993657061,"version":"4.4.0"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,11,22]],"date-time":"2019-11-22T00:00:00Z","timestamp":1574380800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001843","name":"Science and Engineering Research Board","doi-asserted-by":"publisher","award":["SB\/SO\/HS\/005\/2014"],"award-info":[{"award-number":["SB\/SO\/HS\/005\/2014"]}],"id":[{"id":"10.13039\/501100001843","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":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The phenotypic spectrum of Type 2 collagenopathies ranges from lethal achondrogenesis Type 2 to milder osteoarthritis with mild chondrodysplasia. All of them are monoallelic except for the two recent reports showing that biallelic variants in <jats:italic>COL2A1<\/jats:italic> can cause spondyloepiphyseal dysplasia congenita in two children. Here we report two additional families with homozygous variants, c.4135C&gt;T (p.Arg1379Cys) and c.3190C&gt;T (p.Arg1133Cys) in <jats:italic>COL2A1<\/jats:italic> resulting in two distinct skeletal dysplasia phenotypes of intermediate severity. Though all six patients from four families exhibit a spondylo\u2010epimetaphyseal dysplasia, they demonstrate a wide variation in severity of short stature and involvement of epiphyses, metaphyses, and vertebrae. We hypothesize that the variants are likely to be hypomorphic, given the underlying mechanisms of disease causation for known heterozygous variants in <jats:italic>COL2A1<\/jats:italic>. With this report, we provide further evidence to the existence of autosomal recessive Type 2 collagenopathy.<\/jats:p>","DOI":"10.1002\/ajmg.a.61414","type":"journal-article","created":{"date-parts":[[2019,11,22]],"date-time":"2019-11-22T09:56:56Z","timestamp":1574416616000},"page":"338-347","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Biallelic variants p.Arg1133Cys and p.Arg1379Cys in <i>COL2A1<\/i>: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0139-8239","authenticated-orcid":false,"given":"Katta M.","family":"Girisha","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gandham S.","family":"Bhavani","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitesh","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, Kasturba Medical College Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0756-9868","authenticated-orcid":false,"given":"Amita","family":"Moirangthem","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8347-429X","authenticated-orcid":false,"given":"Anju","family":"Shukla","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal Academy of Higher Education  Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ok\u2010Hwa","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology Woorisoa Children's Hospital  Seoul Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Center for Intractable Diseases Iruma\u2010gun Saitama Medical University Hospital  Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9871-4578","authenticated-orcid":false,"given":"Geert R.","family":"Mortier","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics University of Antwerp and Antwerp University Hospital  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37374"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.250"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22915"},{"issue":"20","key":"e_1_2_8_5_1","doi-asserted-by":"crossref","first-page":"15238","DOI":"10.1016\/S0021-9258(18)82461-9","article-title":"Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia","volume":"268","author":"Chan D.","year":"1993","journal-title":"The Journal of Biological Chemistry"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2003.18.9.1612"},{"key":"e_1_2_8_7_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Gregersen P. A.","year":"1993"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.035717"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471221929.ch2"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12466"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2015.105"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30531"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-9-40"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.61414","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61414","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61414","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61414","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T00:21:08Z","timestamp":1694132468000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61414"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,22]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2020,2]]}},"alternative-id":["10.1002\/ajmg.a.61414"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61414","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,22]]},"assertion":[{"value":"2019-08-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-10-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-11-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}