A single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type v

American Journal of Human Genetics

Volumn 91, Issue 2, 2012, Pages 343-348

  Cho, Tae Joon ^a   Lee, Kyung Eun ^b   Lee, Sook Kyung ^b   Song, Su Jeong ^b   Kim, Kyung Jin ^b   Jeon, Daehyun ^b   Lee, Gene ^b   Kim, Ha Neui ^b   Lee, Hye Ran ^a   Eom, Hye Hyun ^c   Lee, Zang Hee ^b   Kim, Ok Hwa ^d   Park, Woong Yang ^c   Park, Sung Sup ^c   Ikegawa, Shiro ^e   Yoo, Won Joon ^a   Choi, In Ho ^a   Kim, Jung Wook ^b  

^a Seoul National University Children's Hospital   (South Korea)

^b Seoul National University   (South Korea)

^c Seoul National University College of Medicine   (South Korea)

^d Ajou University Medical Center   (South Korea)

^e RIKEN   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

INTERFERON INDUCED TRANSMEMBRANE PROTEIN 5; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; AGED; AMINO TERMINAL SEQUENCE; ARTICLE; CHILD; CLINICAL ARTICLE; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; LINKAGE ANALYSIS; MALE; OSTEOGENESIS IMPERFECTA; OSTEOGENESIS IMPERFECTA TYPE V; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT MUTATION; SCHOOL CHILD;

5' UNTRANSLATED REGIONS; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; EXOME; FEMALE; GENETIC LINKAGE; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; OSTEOGENESIS IMPERFECTA; POINT MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84864946186     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.06.005     Document Type: Article

References (16)

1. D.O. Sillence, A. Senn, and D.M. Danks Genetic heterogeneity in osteogenesis imperfecta J. Med. Genet. 16 1979 101 116
2. F. Rauch, and F.H. Glorieux Osteogenesis imperfecta Lancet 363 2004 1377 1385
3. J. Becker, O. Semler, C. Gilissen, Y. Li, H.J. Bolz, C. Giunta, C. Bergmann, M. Rohrbach, F. Koerber, and K. Zimmermann Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta Am. J. Hum. Genet. 88 2011 362 371
4. R. Morello, T.K. Bertin, Y. Chen, J. Hicks, L. Tonachini, M. Monticone, P. Castagnola, F. Rauch, F.H. Glorieux, and J. Vranka CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta Cell 127 2006 291 304
5. W.A. Cabral, W. Chang, A.M. Barnes, M. Weis, M.A. Scott, S. Leikin, E. Makareeva, N.V. Kuznetsova, K.N. Rosenbaum, and C.J. Tifft Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta Nat. Genet. 39 2007 359 365
6. F.S. van Dijk, I.M. Nesbitt, E.H. Zwikstra, P.G. Nikkels, S.R. Piersma, S.A. Fratantoni, C.R. Jimenez, M. Huizer, A.C. Morsman, and J.M. Cobben PPIB mutations cause severe osteogenesis imperfecta Am. J. Hum. Genet. 85 2009 521 527
7. H.E. Christiansen, U. Schwarze, S.M. Pyott, A. AlSwaid, M. Al Balwi, S. Alrasheed, M.G. Pepin, M.A. Weis, D.R. Eyre, and P.H. Byers Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta Am. J. Hum. Genet. 86 2010 389 398
8. Y. Alanay, H. Avaygan, N. Camacho, G.E. Utine, K. Boduroglu, D. Aktas, M. Alikasifoglu, E. Tuncbilek, D. Orhan, and F.T. Bakar Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta Am. J. Hum. Genet. 86 2010 551 559
9. A. Forlino, W.A. Cabral, A.M. Barnes, and J.C. Marini New perspectives on osteogenesis imperfecta Nat Rev Endocrinol 7 2011 540 557
10. M.L. Warman, V. Cormier-Daire, C. Hall, D. Krakow, R. Lachman, M. LeMerrer, G. Mortier, S. Mundlos, G. Nishimura, and D.L. Rimoin Nosology and classification of genetic skeletal disorders: 2010 revision Am. J. Med. Genet. A. 155A 2011 943 968
11. F.S. Van Dijk, G. Pals, R.R. Van Rijn, P.G. Nikkels, and J.M. Cobben Classification of Osteogenesis Imperfecta revisited Eur. J. Med. Genet. 53 2010 1 5
12. F.H. Glorieux, F. Rauch, H. Plotkin, L. Ward, R. Travers, P. Roughley, L. Lalic, D.F. Glorieux, F. Fassier, and N.J. Bishop Type V osteogenesis imperfecta: a new form of brittle bone disease J. Bone Miner. Res. 15 2000 1650 1658
13. T. Cundy Recent advances in osteogenesis imperfecta Calcif. Tissue Int. 90 2012 439 449
14. D.Y. Lee, T.J. Cho, I.H. Choi, C.Y. Chung, W.J. Yoo, J.H. Kim, and Y.K. Park Clinical and radiological manifestations of osteogenesis imperfecta type V J. Korean Med. Sci. 21 2006 709 714
15. P. Moffatt, M.H. Gaumond, P. Salois, K. Sellin, M.C. Bessette, E. Godin, P.T. de Oliveira, G.J. Atkins, A. Nanci, and G. Thomas Bril: a novel bone-specific modulator of mineralization J. Bone Miner. Res. 23 2008 1497 1508
16. N. Hanagata, X. Li, H. Morita, T. Takemura, J. Li, and T. Minowa Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice J. Bone Miner. Metab. 29 2011 279 290