{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T12:42:18Z","timestamp":1773837738027,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,12,8]],"date-time":"2004-12-08T00:00:00Z","timestamp":1102464000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arthritis &amp; Rheumatism"],"published-print":{"date-parts":[[2004,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To define the clinical, radiologic, and molecular genetic characteristics of a family with early progressive osteoarthritis mimicking childhood rheumatoid arthritis, Scheuermann\u2010like changes of the spine, tall stature, short 3 and 4 metatarsals, and moderate sensorineural hearing loss.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe a 22\u2010year\u2010old woman and her 54\u2010year\u2010old mother with early progressive osteoarthritis mimicking childhood rheumatoid arthritis. The index case, her mother, and 3 other family members underwent a physical examination, anthropometric measurements, and radiologic studies. Their DNA was sequenced for the procollagen type II (COL2A1) gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mild scoliosis was noticed in the proband at the age of 6 years, and at the age of 7 years large Schmorl's nodes were found in the vertebrae L1\u20102. At the age of 11 years, changes resembling Scheuermann's disease were seen, mostly in the thoracic vertebrae. At the same age, she began to have arthralgia in the weight\u2010bearing joints and osteoarthritis progressed fast, necessitating a hip prosthesis at the age of 18 years. The proband and her mother had bilateral sensorineural hearing loss of moderate degree. Both mother and daughter had an Arg<jats:sup>75<\/jats:sup>\u2010Cys mutation in the COL2A1 gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This family is the fourth example of the Arg<jats:sup>75<\/jats:sup>\u2010Cys mutation in the COL2A1 gene, which appears to lead to a clearly recognizable phenotype. The finding suggests that sensorineural hearing loss may be a part of this syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1002\/art.20817","type":"journal-article","created":{"date-parts":[[2004,12,8]],"date-time":"2004-12-08T21:32:57Z","timestamp":1102541577000},"page":"925-932","source":"Crossref","is-referenced-by-count":35,"title":["Childhood\u2010onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg<sup>75<\/sup>\u2010Cys mutation in procollagen type II gene (COL2A1)"],"prefix":"10.1002","volume":"51","author":[{"given":"Tuija","family":"L\u00f6pp\u00f6nen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jarmo","family":"K\u00f6rkk\u00f6","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tuija","family":"Lundan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulpu","family":"Sepp\u00e4nen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaakko","family":"Ignatius","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena","family":"K\u00e4\u00e4ri\u00e4inen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,12,8]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/00003086-200208000-00006"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<376::AID-AJMG9>3.0.CO;2-H"},{"key":"e_1_2_6_4_2","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/S0889-857X(21)00330-6","article-title":"Heredity, genes and osteoarthritis","volume":"19","author":"Williams CJ","year":"1993","journal-title":"Rheum Dis Clin North Am"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<106::AID-AJMG20>3.0.CO;2-R"},{"key":"e_1_2_6_6_2","first-page":"1594","article-title":"Hereditary osteoarthritis with mild spondyloepiphyseal dysplasia: are there \u201cHot Spots\u201d on COL2A1?","volume":"23","author":"Bleasel JF","year":"1996","journal-title":"J Rheumatol"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.17.6565"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/ard.43.2.275"},{"key":"e_1_2_6_9_2","first-page":"255","article-title":"Type II procollagen gene (COL2A1) mutation in exon 11 associated with spondyloepiphyseal dysplasia, tall stature and precocious osteoarthritis","volume":"22","author":"Bleasel JF","year":"1995","journal-title":"J Rheumatol"},{"key":"e_1_2_6_10_2","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 a I(II) collagen chain of a patient with spondyloepiphyseal dysplasia","volume":"268","author":"Chan D","year":"1993","journal-title":"J Biol Chem"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780370216"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00216458"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.2.309"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:3<172::AID-HUMU4>3.0.CO;2-J"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780370714"},{"key":"e_1_2_6_16_2","first-page":"345","volume-title":"The human spine in health and disease","author":"Schmorl G","year":"1971"},{"key":"e_1_2_6_17_2","first-page":"79","volume-title":"Pediatric ortopedic radiology","author":"Ozonoff MB","year":"1992"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1097\/00000441-195909000-00030"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000515)92:2<95::AID-AJMG3>3.0.CO;2-9"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3250"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199002223220807"}],"container-title":["Arthritis Care &amp; 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