{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,10]],"date-time":"2026-11-10T19:35:55Z","timestamp":1794339355551,"version":"4.9.0"},"reference-count":20,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,7]]},"abstract":"Osteogenesis imperfecta, is a genetically and clinically heterogeneous connective tissue disorder that disrupts bone architecture, making it fragile and more prone to fractures. While more than 85% of cases are due to variants in COL1A1<\/jats:italic> and COL1A2<\/jats:italic>, variants in noncollagen genes have been identified in the remaining cases. The recurring heterozygous variant in IFITM5<\/jats:italic> (c.-14C>T) leads to osteogenesis imperfecta type V, a second missense variant in IFITM5<\/jats:italic> (c.119C>T, p.Ser40Leu) leads to phenotype resembling osteogenesis imperfecta type VI. In this report, we describe the first patient with Ser40Trp variant in IFITM5<\/jats:italic>, who presented with multiple fractures in the prenatal period. She remained fracture free after birth (except for trauma-related fractures during puberty) with normal bone mineral densitometry. Her mother, who did not have a history of fracture, was noted to have somatogonadal mosaicism for this variant and became pregnant with a second child with multiple prenatal fractures, found to have the same variant. To our knowledge, this is the first case of somatogonadal mosaicism in IFITM5<\/jats:italic>. In addition, we have summarized the literature on patients presenting with variant in codon 40 (serine) of IFTIM5<\/jats:italic> protein.<\/jats:p>","DOI":"10.1097\/mcd.0000000000000279","type":"journal-article","created":{"date-parts":[[2019,4,13]],"date-time":"2019-04-13T11:19:34Z","timestamp":1555154374000},"page":"118-123","source":"Crossref","is-referenced-by-count":18,"title":["A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature"],"prefix":"10.1097","volume":"28","author":[{"given":"Jiin Ying","family":"Lim","sequence":"first","affiliation":[{"name":"Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neha Singh","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital"},{"name":"Paediatric Academic Medical Programme, Duke-NUS Medical School"},{"name":"Division of 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Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schwarze","sequence":"additional","affiliation":[{"name":"Center for Precision Diagnostics, University of Washington, Seattle, Washington, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saumya Shekhar","family":"Jamuar","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital"},{"name":"Paediatric Academic Medical Programme, Duke-NUS Medical School"},{"name":"Institute of Precision Medicine, SingHealth Duke-NUS Medical School, Singapore, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20230913","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","year":"1988","journal-title":"Am J Hum 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