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. 2015 Oct;6(4):164-72.
doi: 10.1159/000439506. Epub 2015 Sep 3.

Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V

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Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V

Evelise Brizola et al. Mol Syndromol. 2015 Oct.

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.

Keywords: Autosomal dominant inheritance; IFITM5; Osteogenesis imperfecta.

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Figures

Fig. 1
Fig. 1
Patients and radiological findings. Case 1: A, B Patient images. C Throracolumbar scoliosis and irregular rib positions. D CIM. Case 2: E, F Patient images. G Thoracic scoliosis and irregular rib positions. H CIM. Case 3: I, J Patient images. K Severe cervicothoracolumbar scoliosis. L CIM. Case 5: M, N Patient images. O Thoracic scoliosis and rib deformities. P, Q CIM and DRH. Case 6: R, S Patient images. T Reduction of height of vertebral bodies, scoliosis and rib deformities. U HPC after femur fracture. Case 7: V, W Patient images. X, Y Reduction of height of vertebral body and rib irregularities. Z CIM.
Fig. 2
Fig. 2
Sanger sequencing showing c.-14C>T mutation in the IFITM5 gene.

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References

    1. Balasubramanian M, Parker MJ, Dalton A, Giunta C, Lindert U, et al. Genotype-phenotype study in type V osteogenesis imperfecta. Clin Dysmorphol. 2013;22:93–101. - PubMed
    1. Battle WH, Shattock SG. A remarkable case of diffuse cancellous osteoma of the femur following a fracture, in which similar growths afterwards developed in connection with other bones. Proc R Soc Med. 1908;1:83–114. - PMC - PubMed
    1. Bauze RV, Smith R, Francis MJO. A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty-two patients. J Bone Joint Surg Br. 1975;57:2–12. - PubMed
    1. Cheung MS, Glorieux FH, Rauch F. Natural history of hyperplastic callus formation in osteogenesis imperfecta type V. J Bone Miner Res. 2007;22:1181–1186. - PubMed
    1. Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, et al. A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet. 2012;91:343–348. - PMC - PubMed

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