{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T21:03:43Z","timestamp":1791234223324,"version":"4.1.0"},"reference-count":32,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,4,11]],"date-time":"2002-04-11T00:00:00Z","timestamp":1018483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Skin hyperelasticity, tissue fragility with atrophic scars, and joint hypermobility are characteristic for the classical type of Ehlers\u2010Danlos syndrome (EDS). The disease is usually inherited as an autosomal dominant trait; however, recessive mode of inheritance has been documented in tenascin\u2010X\u2010deficient EDS patients. Mutations in the genes coding for collagen \u03b11(V) chain (<jats:italic>COL5A1<\/jats:italic>), collagen \u03b12(V) chain (<jats:italic>COL5A2<\/jats:italic>), tenascin\u2010X (<jats:italic>TNX<\/jats:italic>), and collagen \u03b11(I) chain (<jats:italic>COL1A1<\/jats:italic>) have been characterized in patients with classical EDS, thus confirming the suspected genetic heterogeneity. Recently, we described a patient with severe classical EDS due to a Gly1489Glu substitution in the \u03b11(V) triple\u2010helical domain who was, in addition, heterozygous for a disease\u2010modifying Gly530Ser substitution in the \u03b11(V) NH<jats:sub>2<\/jats:sub>\u2010terminal domain [Giunta and Steinmann, <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib10\">2000<\/jats:ext-link>: Am. J. Med. Genet. 90:72\u201379; Steinmann and Giunta, <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib26\">2000<\/jats:ext-link>: Am. J. Med. Genet. 93:342]. Here, we report on a 4\u2010year\u2010old boy with mild classical EDS, born to healthy consanguineous Turkish parents; the mother presented a soft skin, while the father had a normal thick skin. Ultrastructural analysis of the dermis revealed in the patient the typical \u201ccauliflower\u201d collagen fibrils, while in both parents variable moderate aberrations were seen. Mutation revealed the presence of a homozygous Gly530Ser substitution in the \u03b11(V) collagen chains in the patient, while both parents were heterozygous for the same substitution. An additional mutation in either the <jats:italic>COL5A1<\/jats:italic> and <jats:italic>COL5A2<\/jats:italic> genes was excluded. Furthermore, haplotype analysis with polymorphic microsatellite markers excluded linkage to the genes coding for \u03b13(V) collagen (<jats:italic>COL5A3<\/jats:italic>), tenascin\u2010X (<jats:italic>TNX<\/jats:italic>), thrombospondin\u20102 (<jats:italic>THBS2<\/jats:italic>), and decorin (<jats:italic>DCN<\/jats:italic>). These new findings support further our previous hypothesis that the heterozygous Gly530Ser substitution is disease modifying and now suggest that in the homozygous state it is disease causing. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10373","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:45:33Z","timestamp":1030319133000},"page":"284-290","source":"Crossref","is-referenced-by-count":34,"title":["Homozygous Gly530Ser substitution in <i>COL5A1<\/i> causes mild classical Ehlers\u2010Danlos syndrome"],"prefix":"10.1002","volume":"109","author":[{"given":"C.","family":"Giunta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Nuytinck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Raghunath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Hausser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"De 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