title: Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation.
abstract: In a large cohort of osteogenesis imperfecta type V (OI type V) patients (17 individuals from 12 families), we identified the same mutation in the 5' untranslated region (5'UTR) of the interferon-induced transmembrane protein 5 (IFITM5) gene by whole exome and Sanger sequencing (IFITM5 c.-14C > T) and provide a detailed description of their phenotype. This mutation leads to the creation of a novel start codon adding five residues to IFITM5 and was recently reported in several other OI type V families. The variability of the phenotype was quite large even within families. Whereas some patients presented with the typical calcification of the forearm interosseous membrane, radial head dislocation and hyperplastic callus (HPC) formation following fractures, others had only some of the typical OI type V findings. Thirteen had calcification of interosseous membranes, 14 had radial head dislocations, 10 had HPC, 9 had long bone bowing, 11 could ambulate without assistance, and 1 had mild unilateral mixed hearing loss. The bone mineral density varied greatly, even within families. Our study thus highlights the phenotypic variability of OI type V caused by the IFITM5 mutation.
authors: Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institution, Johns Hopkins University, Baltimore, MD, USA.
authors: Jay R
authors: JR
authors: Shapiro
authors: Caressa
authors: C
authors: Lietman
authors: Monica
authors: M
authors: Grover
authors: James T
authors: JT
authors: Lu
authors: Sandesh Cs
authors: SC
authors: Nagamani
authors: Brian C
authors: BC
authors: Dawson
authors: Dustin M
authors: DM
authors: Baldridge
authors: Matthew N
authors: MN
authors: Bainbridge
authors: Dan H
authors: DH
authors: Cohn
authors: Maria
authors: M
authors: Blazo
authors: Timothy T
authors: TT
authors: Roberts
authors: Feng-Shu
authors: FS
authors: Brennen
authors: Yimei
authors: Y
authors: Wu
authors: Richard A
authors: RA
authors: Gibbs
authors: Pamela
authors: P
authors: Melvin
authors: Philippe M
authors: PM
authors: Campeau
authors: Brendan H
authors: BH
authors: Lee
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics*; D000328:Adult; D015519:Bone Density; D002648:Child; D002675:Child, Preschool; D018387:Codon, Initiator / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D017354:Point Mutation; D011859:Radiography; D012189:Retrospective Studies
chemical_list: D020121:5' Untranslated Regions; D018387:Codon, Initiator; C575746:IFITM5 protein, human; D008565:Membrane Proteins