title: Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.
abstract: Osteogenesis imperfecta type V (OI-V) has a wide clinical variability, with distinct clinical/radiological features, such as calcification of the interosseous membrane (CIM) between the radius-ulna and/or tibia-fibula, hyperplastic callus (HPC) formation, dislocation of the radial head (DRH), and absence of dentinogenesis imperfecta (DI). Recently, a single heterozygous mutation (c.-14C>T) in the 5'UTR of the IFITM5 gene was identified to be causative for OI-V. Here, we describe 7 individuals from 5 unrelated families that carry the c.-14C>T IFITM5 mutation. The clinical findings in these cases are: absence of DI in all patients, presence of blue sclera in 2 cases, and 4 patients with DRH. Radiographic findings revealed HPC in 3 cases. All patients presented CIM between the radius and ulna, while 4 patients presented additional CIM between the tibia and fibula. Spinal fractures by vertebral compression were observed in all individuals. The proportion of cases identified with this mutation represents 4% of OI cases at our institution. The clinical identification of OI-V is crucial, as this mutation has an autosomal dominant inheritance with variable expressivity.
authors.affiliation: Postgraduate Programs in Child and Adolescent Health, Porto Alegre, Brazil.
authors.forename: Evelise
authors.initials: E
authors.lastname: Brizola
authors.affiliation: Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
authors.forename: Eduardo P
authors.initials: EP
authors.lastname: Mattos
authors.affiliation: Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
authors.forename: Jessica
authors.initials: J
authors.lastname: Ferrari
authors.affiliation: Hospital da Polícia Militar de Pernambuco, Recife, Brazil.
authors.forename: Patricia O A
authors.initials: PO
authors.lastname: Freire
authors.affiliation: Medical Genetics Center, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira/FIOCRUZ, Rio de Janeiro, Brazil.
authors.forename: Raquel
authors.initials: R
authors.lastname: Germer
authors.affiliation: Medical Genetics Center, Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira/FIOCRUZ, Rio de Janeiro, Brazil.
authors.forename: Juan C
authors.initials: JC
authors.lastname: Llerena
authors.affiliation: Postgraduate Programs in Child and Adolescent Health, Porto Alegre, Brazil ; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil.
authors.forename: Têmis M
authors.initials: TM
authors.lastname: Félix
keywords: Autosomal dominant inheritance; IFITM5; Osteogenesis imperfecta