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A rare condition exists in which patients are clinically similar but have normal levels of LH activity (designated EDS VIB: OMIM no. 229200). To define the biochemical defect, we have examined cultured fibroblasts from four EDS VIB patients for changes in the levels of the mRNAs for LH1, LH2, and LH3, collagen cross\u2010linking patterns, and the extent of lysine hydroxylation of type I collagen \u03b1 chains. Although normal levels of <jats:italic>LH1<\/jats:italic> mRNA were observed in all four patients, in two patients the levels of <jats:italic>LH2<\/jats:italic> mRNA were decreased by &gt;50%, and a similar decrease was observed in <jats:italic>LH3<\/jats:italic> mRNA in the other two patients. A distinct pattern of collagen cross\u2010links, indicative of decreased lysyl hydroxylation, could be identified in EDS VIA patients, but there was no clear correlation between collagen cross\u2010link pattern and changes in the individual <jats:italic>LH<\/jats:italic> mRNAs in EDS VIB patients. Linkage to tenascin\u2010X was excluded in these patients. This study suggests that the basis for this form of EDS VI is genetically heterogeneous, and that alternative pathways in addition to lysine hydroxylation of collagen may be affected. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30302","type":"journal-article","created":{"date-parts":[[2004,11,12]],"date-time":"2004-11-12T23:48:15Z","timestamp":1100303295000},"page":"155-162","source":"Crossref","is-referenced-by-count":14,"title":["Heterogeneous basis of the type VIB form of Ehlers\u2013Danlos syndrome (EDS VIB) that is unrelated to decreased collagen lysyl hydroxylation"],"prefix":"10.1002","volume":"131A","author":[{"given":"L.C.","family":"Walker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.A.","family":"Overstreet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.C.","family":"Willing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.C.","family":"Marini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.A.","family":"Cabral","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Pals","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Bristow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Atsawasuwan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Yamauchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather 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