{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T03:51:46Z","timestamp":1782964306143,"version":"3.54.5"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,10,19]],"date-time":"2011-10-19T00:00:00Z","timestamp":1318982400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:p>Valli M, Barnes AM, Gallanti A, Cabral WA, Viglio S, Weis MA, Makareeva E, Eyre D, Leikin S, Antoniazzi F, Marini JC, Mottes M. Deficiency of CRTAP in non\u2010lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.<\/jats:p><jats:p>Deficiency of any component of the ER\u2010resident collagen prolyl 3\u2010hydroxylation complex causes recessive osteogenesis imperfecta (OI). The complex modifies the <jats:italic>\u03b1<\/jats:italic>1(I)Pro986 residue and contains cartilage\u2010associated protein (CRTAP), prolyl 3\u2010hydroxylase 1 (P3H1) and cyclophilin B (CyPB). Fibroblasts normally secrete about 10% of CRTAP. Most <jats:italic>CRTAP<\/jats:italic> mutations cause a null allele and lethal type VII OI. We identified a 7\u2010year\u2010old Egyptian boy with non\u2010lethal type VII OI and investigated the effects of his null <jats:italic>CRTAP<\/jats:italic> mutation on collagen biochemistry, the prolyl 3\u2010hydroxylation complex, and collagen in extracellular matrix. The proband is homozygous for an insertion\/deletion in <jats:italic>CRTAP<\/jats:italic> (c.118_133del16insTACCC). His dermal fibroblasts synthesize fully overmodified type I collagen, and 3\u2010hydroxylate only 5% of <jats:italic>\u03b1<\/jats:italic>1(I)Pro986. <jats:italic>CRTAP<\/jats:italic> transcripts are 10% of control. CRTAP protein is absent from proband cells, with residual P3H1 and normal CyPB levels. Dermal collagen fibril diameters are significantly increased. By immunofluorescence of long\u2010term cultures, we identified a severe deficiency (10\u201315% of control) of collagen deposited in extracellular matrix, with disorganization of the minimal fibrillar network. Quantitative pulse\u2010chase experiments corroborate deficiency of matrix deposition, rather than increased matrix turnover. We conclude that defects of extracellular matrix, as well as intracellular defects in collagen modification, contribute to the pathology of type VII OI.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01794.x","type":"journal-article","created":{"date-parts":[[2011,9,28]],"date-time":"2011-09-28T16:58:55Z","timestamp":1317229135000},"page":"453-459","source":"Crossref","is-referenced-by-count":36,"title":["Deficiency of <i>CRTAP<\/i> in non\u2010lethal recessive osteogenesis imperfecta reduces collagen deposition into 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