The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; And causes varying phenotypic severity of osteogenesis imperfecta type v

BMC Musculoskeletal Disorders

Volumn 15, Issue 1, 2014, Pages

  Lazarus, Syndia ^a,b,c   McInerney Leo, Aideen M ^a   McKenzie, Fiona A ^d,e   Baynam, Gareth ^d,e   Broley, Stephanie ^d   Cavan, Barbra V ^f   Munns, Craig F ^g,h   Pruijs, Johannes Egbertus Hans ⁱ   Sillence, David ^h,j   Terhal, Paulien A ⁱ   Pryce, Karena ^a   Brown, Matthew A ^a   Zankl, Andreas ^a,b   Thomas, Gethin ^a   Duncan, Emma L ^a,b,c  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

^d Genetic Services of Western Australia   (Australia)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^f Cebu Institute of Medicine   (Philippines)

^g CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^h SYDNEY CHILDREN'S HOSPITAL   (Australia)

ⁱ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^j UNIVERSITY OF SYDNEY   (Australia)

more..

Author keywords

Bone restricted interferon induced transmembrane protein like protein (BRIL); Hyperplastic callus; Interferon induced transmembrane protein 5 (IFITM5); Osteogenesis imperfecta; Radial head dislocation

Indexed keywords

COMPLEMENTARY DNA; PROTEIN; PROTEIN IFITM 5; RNA; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BODY HEIGHT; BONE; BONE DENSITY; BONE FRAGILITY; CALCIFICATION; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; ELBOW; FEMALE; FOREARM; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; HETEROZYGOTE; HUMAN; LIMB DEFORMITY; MALE; MODIFIER GENE; MOTHER; MUTANT; OSSIFYING MYOSITIS; OSTEOGENESIS IMPERFECTA; OSTEOGENESIS IMPERFECTA TYPE 4; PHENOTYPE; PHYSICAL ACTIVITY; RNA EXTRACTION; SON; START CODON; TRANSCRIPTION ELONGATION; WILD TYPE;

5' UNTRANSLATED REGIONS; ADOLESCENT; ADULT; BONE AND BONES; BONE DENSITY; BONY CALLUS; CALCINOSIS; CHILD; CODON, INITIATOR; DISLOCATIONS; DNA, COMPLEMENTARY; FEMALE; FRACTURES, SPONTANEOUS; GENES, DOMINANT; HETEROZYGOTE; HUMANS; HYPERPLASIA; MALE; MIDDLE AGED; OSTEOGENESIS IMPERFECTA; PHENOTYPE; POINT MUTATION; RADIUS; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 84898449408     PISSN: None     EISSN: 14712474     Source Type: Journal    
DOI: 10.1186/1471-2474-15-107     Document Type: Article

References (25)

1. A remarkable case of diffuse cancellous osteoma of the femur, following a fracture, in which similar growths afterwards developed in connection with other bones. Battle WH, Shattock SG, Proc R Soc Med 1908 1 Pathol Sect 83 115
2. Smith R, Francis MJO, Houghton GR, The Brittle Bone Syndrome. Osteogenesis Imperfecta London: Butterworths 1983
3. A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty-two patients. Bauze RJ, Smith R, Francis MJ, J Bone Joint Surg (Br) 1975 57 1 2 12 1117018
4. Type V osteogenesis imperfecta: a new form of brittle bone disease. Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ, J Bone Miner Res 2000 15 9 1650 1658 10.1359/jbmr.2000.15.9.1650 10976985 (Pubitemid 30666219)
5. Clinical and radiological manifestations of osteogenesis imperfecta type V. Lee DY, Cho TJ, Choi IH, Chung CY, Yoo WJ, Kim JH, Park YK, J Korean Med Sci 2006 21 4 709 714 10.3346/jkms.2006.21.4.709 16891817
6. Natural history of hyperplastic callus formation in osteogenesis imperfecta type V. Cheung MS, Glorieux FH, Rauch F, J Bone Miner Res 2007 22 8 1181 1186 10.1359/jbmr.070418 17451374 (Pubitemid 351339700)
7. Cyclic bisphosphonate therapy in osteogenesis imperfecta type V. Fleming F, Woodhead HJ, Briody JN, Hall J, Cowell CT, Ault J, Kozlowski K, Sillence DO, J Paediatr Child Health 2005 41 3 147 151 10.1111/j.1440-1754.2005.00567.x 15790328 (Pubitemid 40477608)
8. The effect of cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta type V. Zeitlin L, Rauch F, Travers R, Munns C, Glorieux FH, Bone 2006 38 1 13 20 10.1016/j.bone.2005.07.020 16162424 (Pubitemid 43006070)
9. A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW, Am J Hum Genet 2012 91 2 343 348 10.1016/j.ajhg.2012.06.005 22863190
10. A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C, Am J Hum Genet 2012 91 2 349 357 10.1016/j.ajhg.2012.06.011 22863195
11. Bril: a novel bone-specific modulator of mineralization. Moffatt P, Gaumond MH, Salois P, Sellin K, Bessette MC, Godin E, de Oliveira PT, Atkins GJ, Nanci A, Thomas G, J Bone Miner Res 2008 23 9 1497 1508 10.1359/jbmr.080412 18442316
12. Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C > T mutation in all patients. Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund AM, Ramirez N, Fahiminiya S, Majewski J, Glorieux FH, J Med Genet 2013 50 1 21 24 10.1136/jmedgenet-2012-101307 23240094
13. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH, J Bone Miner Res 2013 28 7 1523 1530 10.1002/jbmr.1891 23408678
14. Genotype-phenotype study in type V osteogenesis imperfecta. Balasubramanian M, Parker MJ, Dalton A, Giunta C, Lindert U, Peres LC, Wagner BE, Arundel P, Offiah A, Bishop NJ, Clin Dysmorphol 2013 22 3 93 101 10.1097/MCD.0b013e32836032f0 23612438
15. A recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Takagi M, Sato S, Hara K, Tani C, Miyazaki O, Nishimura G, Hasegawa T, Am J Med Genet A 2013 161A 8 1980 1982 23813632
16. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. Shore EM, Xu M, Feldman GJ, Fenstermacher DA, Cho TJ, Choi IH, Connor JM, Delai P, Glaser DL, LeMerrer M, Morhart R, Rogers JG, Smith R, Triffitt JT, Urtizberea JA, Zasloff M, Brown MA, Kaplan FS, Nat Genet 2006 38 5 525 527 10.1038/ng1783 16642017
17. Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene. Grover M, Campeau PM, Lietman CD, Lu JT, Gibbs RA, Schlesinger AE, Lee BH, J Bone Miner Res 2013 28 11 2333 2337 10.1002/jbmr.1983 23674381
18. Radial head dislocation and subluxation in osteogenesis imperfecta. Fassier AM, Rauch F, Aarabi M, Janelle C, Fassier F, J Bone Joint Surg Am 2007 89 12 2694 2704 10.2106/JBJS.F.01287 18056502 (Pubitemid 350230624)
19. Nosology and classification of genetic skeletal disorders: 2010 revision. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A, Am J Med Genet A 2011 155A 5 943 968 21438135
20. Genetic heterogeneity in osteogenesis imperfecta. Sillence DO, Senn A, Danks DM, J Med Genet 1979 16 2 101 116 10.1136/jmg.16.2.101 458828 (Pubitemid 9164903)
21. Classification of osteogenesis imperfecta revisited. Van Dijk FS, Pals G, Van Rijn RR, Nikkels PG, Cobben JM, Eur J Med Genet 2010 53 1 1 5 10.1016/j.ejmg.2009.10.007 19878741
22. New perspectives on osteogenesis imperfecta. Forlino A, Cabral WA, Barnes AM, Marini JC, Nat Rev Endocrinol 2011 7 9 540 557 10.1038/nrendo.2011.81 21670757
23. Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model. Daley E, Streeten EA, Sorkin JD, Kuznetsova N, Shapses SA, Carleton SM, Shuldiner AR, Marini JC, Phillips CL, Goldstein SA, Leikin S, McBride DJ Jr, J Bone Miner Res 2010 25 2 247 261 10.1359/jbmr.090720 19594296
24. Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice. Hanagata N, Li X, Morita H, Takemura T, Li J, Minowa T, J Bone Miner Metab 2011 29 3 279 290 10.1007/s00774-010-0221-0 20838829
25. Natural antisense transcripts enhance bone formation by increasing sense IFITM5 transcription. Liu Y, Liu H, Titus L, Boden SD, Bone 2012 51 5 933 938 10.1016/j.bone.2012.07.024 22884724