{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:26:18Z","timestamp":1790807178236,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2011,9,30]],"date-time":"2011-09-30T00:00:00Z","timestamp":1317340800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations of proteins involved in posttranslational modification of collagen type I can cause osteogenesis imperfecta (OI) inherited in a recessive pattern. The cartilage\u2010associated protein (CRTAP) is part of a heterotrimeric complex (together with prolyl\u20103\u2010hydroxylase\u20101 [P3H1] and cyclophilin B) that 3\u2010hydroxylates the alpha 1 chain of collagen type I at proline residue 986 and plays a collagen chaperon role. <jats:italic>CRTAP<\/jats:italic> mutations usually cause severe OI. We report on a patient with OI and a homozygous in\u2010frame deletion in <jats:italic>CRTAP<\/jats:italic> and a severe form of OI. The girl was born with markedly deformed long bones. Despite intravenous bisphosphonate treatment, she developed multiple vertebral compression fractures and severe scoliosis and at 4 years of age was able to sit only with support. Although <jats:italic>CRTAP<\/jats:italic> transcript levels were normal in the patient's fibroblasts, protein levels of both CRTAP and P3H1 were severely reduced. The degree of 3\u2010hydroxylation at proline residue 986 was also decreased. This report characterizes a patient with a <jats:italic>CRTAP<\/jats:italic> small in\u2010frame deletion. We are unaware of prior reports of this finding. We suggest that this deletion affects crucial amino acids that are important for the interaction and\/or stabilization of CRTAP and P3H1. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34269","type":"journal-article","created":{"date-parts":[[2011,9,30]],"date-time":"2011-09-30T20:50:35Z","timestamp":1317415835000},"page":"2865-2870","source":"Crossref","is-referenced-by-count":23,"title":["Severe osteogenesis imperfecta caused by a small in\u2010frame deletion in <i>CRTAP<\/i>"],"prefix":"10.1002","volume":"155","author":[{"given":"I.M. 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