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- Title
Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM 5 gene.
- Authors
Grover, Monica; Campeau, Philippe M; Lietman, Caressa Dee; Lu, James T; Gibbs, Richard A; Schlesinger, Alan E; Lee, Brendan H
- Abstract
ABSTRACT Osteogenesis imperfecta (OI) is typically caused by mutations in type 1 collagen genes, but in recent years new recessive and dominant forms caused by mutations in a plethora of different genes have been characterized. OI type V is a dominant form caused by the recurrent (c.-14C > T) mutation in the 5'UTR of the IFITM5 gene. The mutation adds five residues to the N-terminus of the IFITM5, but the pathophysiology of the disease remains to be elucidated. Typical clinical features present in the majority of OI type V patients include interosseous membrane calcification between the radius and ulna and between the tibia and fibula, radial head dislocation, and significant hyperplastic callus formation at the site of fractures. We report a 5-year-old child with clinical features of OI type III or severe OI type IV (characteristic facies, gray sclerae, typical fractures) and absence of classical features of OI type V with a de novo recurrent IFITM5 mutation (c.-14C > T), now typical of OI type V. This highlights the variability of OI caused by IFITM5 mutations and suggests screening for mutations in this gene in most cases of OI where type 1 collagen mutations are absent. © 2013 American Society for Bone and Mineral Research.
- Subjects
OSTEOGENESIS imperfecta; GENETIC mutation; PATHOLOGICAL physiology; ETIOLOGY of diseases; PLETHORA (Pathology); ULNA
- Publication
Journal of Bone & Mineral Research, 2013, Vol 28, Issue 11, p2333
- ISSN
0884-0431
- Publication type
Article
- DOI
10.1002/jbmr.1983