{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:28Z","timestamp":1753869748823,"version":"3.41.2"},"reference-count":21,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,4,13]],"date-time":"2020-04-13T00:00:00Z","timestamp":1586736000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a rare group of disorders characterized by increased susceptibility to fractures due to genetically determined bone fragility. About 90% of cases are due to mutations in<jats:italic>COL1A1<\/jats:italic>(17q21.33) or<jats:italic>COL1A2<\/jats:italic>(7q21.3) resulting in quantitative or qualitative defects in type I collagen, a key structural constituent of bone. OI due to complete<jats:italic>COL1A1<\/jats:italic>deletion is rare.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We present a case of OI type I in a Caucasian female referred at 10\u00a0months of age for investigation of multiple fractures associated with minimal or no known trauma, small stature, and blue sclera. Her father has four to five lifetime fractures, blue sclera, normal stature, and a 14.5 kilobase (kb) deletion of<jats:italic>COL1A1<\/jats:italic>detected by targeted array performed at an outside institution. Microarray comparative genomic hybridization was performed on the proband and all members of the family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A previously unreported 235\u00a0kb deletion at 17q21.33 encompassing<jats:italic>COL1A1<\/jats:italic>,<jats:italic>ITGA3<\/jats:italic>,<jats:italic>PDK2<\/jats:italic>,<jats:italic>SGCA<\/jats:italic>, and<jats:italic>HILS1<\/jats:italic>was detected in the proband. Also identified in both the proband and sibling is a maternally inherited 283\u00a0kb gain at 8p21.3 encompassing<jats:italic>CSGALNACT1<\/jats:italic>and a 163\u00a0kb loss at 10q21.3 encompassing<jats:italic>CTNNA3<\/jats:italic>. Analysis in the father revealed the same size deletion at 17q21.33 as in the proband.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Together with previously reported cases of<jats:italic>COL1A1<\/jats:italic>deletions, this case report emphasizes the importance of a whole\u2010genome DNA copy number assessment in patients suspected for OI, which will elucidate the presence of precise<jats:italic>COL1A1<\/jats:italic>deletions and any pathogenic secondary copy number variations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1241","type":"journal-article","created":{"date-parts":[[2020,4,13]],"date-time":"2020-04-13T08:54:49Z","timestamp":1586768089000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A 235 Kb deletion at 17q21.33 encompassing the<i>COL1A1<\/i>, and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report"],"prefix":"10.1002","volume":"8","author":[{"given":"Numbereye","family":"Numbere","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Rochester Medical Center Rochester NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David R.","family":"Weber","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Department of Pediatrics University of Rochester Medical Center Rochester NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"Jr.","given":"George","family":"Porter","sequence":"additional","affiliation":[{"name":"Pediatric Cardiology Department of Pediatrics University of Rochester Medical Center Rochester NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed A.","family":"Iqbal","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine University of Rochester Medical Center Rochester NY USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,4,13]]},"reference":[{"key":"e_1_2_9_2_1","first-page":"277","article-title":"Lgmd2d syndrome: The importance of clinical and molecular genetics in patient and family management","volume":"37","author":"Al\u2010Harbi K. 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