{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T08:22:20Z","timestamp":1769847740167,"version":"3.49.0"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,1,12]],"date-time":"2014-01-12T00:00:00Z","timestamp":1389484800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2014,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Osteogenesis imperfecta (<jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content>) with C\u2010propeptide mutations in pro\u03b11(I) collagen gene are rarely reported. We report four novel C\u2010propeptide mutations in <jats:italic>COL1A1<\/jats:italic> gene from Chinese <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical characteristics and radiographic findings were described for four <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> patients with C\u2010propeptide mutations in pro\u03b11(I) collagen gene. Mutations were identified by traditional <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequencing based on <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>. The locations of mutations were mapped, and <jats:italic>in silico<\/jats:italic> prediction was conducted to analyse their effects on protein structure. Histology studies of skin, bone and muscle tissues were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All four C\u2010propeptide heterozygous mutations identified were in the <jats:styled-content style=\"fixed-case\"><jats:italic>COL1A1<\/jats:italic><\/jats:styled-content> gene. Heterozygous mutation of c.4021C&gt;T (p.Q1341X) disrupted the chain recognition sequences and was found in patients with type IV <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content>. Mutations of c.3893C&gt;A (p.T1298N) and c.3897C&gt;A (p.C1299X) impeded the formation of disulphide bonds and were associated with type <jats:styled-content style=\"fixed-case\">IV OI<\/jats:styled-content> phenotype. Missense mutation of c.3835A&gt;C (p.N1279H) disrupted Ca<jats:sup>2+<\/jats:sup> binding and led to a severe type <jats:styled-content style=\"fixed-case\">III OI<\/jats:styled-content> phenotype. <jats:italic>In silico<\/jats:italic> programs predicted damaging effects for the patients with type <jats:styled-content style=\"fixed-case\">III OI<\/jats:styled-content> and the creation of an exonic splicing enhancer hexamer sequence for the type <jats:styled-content style=\"fixed-case\">IV<\/jats:styled-content> patients. Expansion of the bone marrow cavity and disorganization of osteocyte alignment was evident in bone specimens; and muscle atrophy and enlargement of intramuscular connective tissue were found in muscle specimens.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Four novel C\u2010propeptide mutations in pro\u03b11(I) collagen gene were identified in Chinese <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> patients, and their clinical severity ranged from moderate type IV to severe type <jats:styled-content style=\"fixed-case\">III<\/jats:styled-content>. <jats:italic>In silico<\/jats:italic> prediction of the mutation effect and histological characteristics of tissue specimens was in accordance with the <jats:styled-content style=\"fixed-case\">OI<\/jats:styled-content> phenotypes.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12354","type":"journal-article","created":{"date-parts":[[2013,10,21]],"date-time":"2013-10-21T13:46:57Z","timestamp":1382363217000},"page":"524-531","source":"Crossref","is-referenced-by-count":14,"title":["Mutational and structural characteristics of four novel heterozygous C\u2010propeptide mutations in the pro\u03b11(I) collagen gene in Chinese osteogenesis imperfecta patients"],"prefix":"10.1111","volume":"80","author":[{"given":"Yanqin","family":"Lu","sequence":"first","affiliation":[{"name":"Key Laboratory for Biotech\u2010Drugs Ministry of Health Key Laboratory for Modern Medicine and Technology of Shandong Province Key Laboratory for Rare &amp; Uncommon Diseases of Shandong Province Key Laboratory for Virology of Shandong Province Shandong Medicinal Biotechnology Centre Shandong Academy of Medical Sciences Jinan China"},{"name":"School of Medicine and Life Sciences University of Jinan\u2010Shandong Academy of Medical 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