{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T01:00:00Z","timestamp":1772067600702,"version":"3.50.1"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,12,28]],"date-time":"2010-12-28T00:00:00Z","timestamp":1293494400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Heterozygous sequence variants of the <jats:italic>COL2A1<\/jats:italic> gene cause a phenotypic spectrum collectively called type II collagenopathies. Here, we describe a <jats:italic>COL2A1<\/jats:italic> sequence variant, c.2957C&gt;T, p.Pro986Leu in the triple helical domain, which is a Y\u2010position substitution in exon 41 of the repeating triplet sequence Gly\u2010X\u2010Y of the pro\u03b11(II) chain. This sequence variant was associated with a mild spondyloepiphyseal dysplasia phenotype in three individuals in a three\u2010generation family. On clinical examination at the age of 19 months, the proband had a flat face, bifid uvula, and a protruding abdomen. Radiographically, he had rhizomelia, mesomelia, and ovoid\u2010shaped vertebrae. He also had absent mineralization of the epiphyses, the os pubis, tali, and calcanei. His mother had myopia, mild lumbar lordosis, and mild coxa vara. She had a detached retina repaired at age 24 years. The maternal grandmother had cataracts but has had no kyphoscoliosis or lordosis. All three had disproportionate short stature. None had arthritis or hearing loss. The sequence variant in this family is the only reported Y\u2010position proline substitution in the triple helical domain (Gly\u2010X\u2010Y) of the pro\u03b11(II) coded by the <jats:italic>COL2A1<\/jats:italic> gene. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33762","type":"journal-article","created":{"date-parts":[[2010,12,28]],"date-time":"2010-12-28T21:31:48Z","timestamp":1293571908000},"page":"174-179","source":"Crossref","is-referenced-by-count":18,"title":["Association of a p.Pro786Leu variant in <i>COL2A1<\/i> with mild spondyloepiphyseal dysplasia congenita in a three\u2010generation family"],"prefix":"10.1002","volume":"155","author":[{"given":"Paul R.","family":"Mark","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wilfredo","family":"Torres\u2010Martinez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph S.","family":"Lachman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David D.","family":"Weaver","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,12,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.17.6565"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-3011.1977.tb03485.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(73)90961-3"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/bip.1979.360180413"},{"key":"e_1_2_7_6_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 \u03b11(II) collagen chains of a patient with spondyloepiphyseal dysplasia","volume":"268","author":"Chan 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