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We have investigated 22 OI patients, representing a heterogeneous phenotypic range, at the biochemical and molecular level. A causal mutation in either type I collagen gene was identified in 20 of them: no recurrent mutation was found in unrelated subjects; 15 out of 20 mutations had not been reported previously. In two patients, we could not find any causative mutation in either type I collagen gene, after extensive genomic DNA sequencing. Failure of COL1A1\/COL1A2 mutation screening may be due, in a few cases, to further clinical heterogeneity, i.e. additional non\u2010collagenous disease loci are presumably involved in OI types beyond the traditional Sillence\u2019s classification.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2006.00646.x","type":"journal-article","created":{"date-parts":[[2006,7,8]],"date-time":"2006-07-08T02:03:08Z","timestamp":1152324188000},"page":"131-139","source":"Crossref","is-referenced-by-count":39,"title":["Osteogenesis imperfecta: clinical, biochemical and molecular findings"],"prefix":"10.1111","volume":"70","author":[{"given":"G","family":"Venturi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Tedeschi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Mottes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Valli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Camilot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Viglio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Antoniazzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Tat\u00f2","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,7]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/25.1.181"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.1.253"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/8259"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20091"},{"key":"e_1_2_6_8_2","first-page":"799","article-title":"Premature termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains","volume":"59","author":"Willing MC","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118495"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/0471221929.ch8"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199706)17:6<559::AID-PD111>3.0.CO;2-G"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:6<503::AID-HUMU11>3.0.CO;2-L"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1086\/383252"},{"key":"e_1_2_6_14_2","first-page":"237","article-title":"Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen","volume":"42","author":"Byers PH","year":"1988","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1124"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20071"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0214841"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1086\/301689"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<366::AID-AJMG21>3.0.CO;2-H"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00206058"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199909)19:9<873::AID-PD645>3.0.CO;2-0"},{"key":"e_1_2_6_22_2","doi-asserted-by":"crossref","first-page":"1872","DOI":"10.1016\/S0021-9258(18)52374-7","article-title":"A de novo G to T transversion in a pro\u2010alpha 1(I) collagen gene for a moderate case of osteogenesis imperfecta. 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