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Most forms of OI result from point mutations in the genes (COL1A1 and COL1A2) that encode the chains of type I procollagen or mutations that affect the expression of these genes. Less frequently, mutations that affect the size of the chain can also result in these phenotypes. The phenotypic presentation appears to be determined by the nature of the mutation, the chain in which it occurs, and, for point mutations, the position of the substitution and the nature of the substituting amino acid in the protein product. Similar mutations in the gene (COL3A1) that encodes the chains of type III procollagen result in the EDS type IV phenotype. Mutations which result in deletion of the cleavage site for the aminoterminal procollagen protease result in the EDS type VII phenotype and other mutations which affect the structure of the triple\u2010helical domain by deletions and alter the conformation of the substrate at the site of proteolytic conversion can produce mixed phenotypes. Alterations in post\u2010translational processing of collagenous proteins can result in the EDS type VI and EDS type IX phenotypes. Linkage analysis and study of type II collagen proteins from individuals with a variety of skeletal dysplasias suggest that similar mutations in these genes also result in clinically apparent phenotypes. Mutations in the majority of the 20 known collagen genes have not yet been identified.<\/jats:p>","DOI":"10.1002\/ajmg.1320340114","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:27:54Z","timestamp":1118496474000},"page":"72-80","source":"Crossref","is-referenced-by-count":70,"title":["Inherited disorders of collagen gene structure and expression"],"prefix":"10.1002","volume":"34","author":[{"given":"Peter H.","family":"Byers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291667"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1980.tb04610.x"},{"key":"e_1_2_1_4_1","unstructured":"BaldwinCT GangulyA RooneyJ HosomiSConwayDM ProckopDJ(1988a): Exon 33 of pro\u03b12(I) collagen is deleted in mRNAs from a patient with osteogenesis imperfecta. 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