Phenotype and Genotype Analysis of Chinese Patients with Osteogenesis Imperfecta Type V

PLoS ONE

Volumn 8, Issue 8, 2013, Pages

  Zhang, Zeng ^a   Li, Mei ^b   He, Jin Wei ^a   Fu, Wen Zhen ^a   Zhang, Chang Qing ^a   Zhang, Zhen Lin ^a  

^a SHANGHAI JIAO TONG UNIVERSITY AFFILIATED SIXTH PEOPLE S HOSPITAL   (China)

^b PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; THYMINE; 5' UNTRANSLATED REGION; IFITM5 PROTEIN, HUMAN; MEMBRANE PROTEIN;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; ARTICLE; CAUCASIAN; CHILD; CHINESE; CLINICAL ARTICLE; COHORT ANALYSIS; EXOME; FAMILY HISTORY; FEMALE; GENE; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOSITY; HUMAN; IFITM5 GENE; MALE; MUTATIONAL ANALYSIS; OSTEOGENESIS IMPERFECTA; OSTEOGENESIS IMPERFECTA TYPE V; PHENOTYPE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; SCHOOL CHILD; SEQUENCE ANALYSIS; ASIAN CONTINENTAL ANCESTRY GROUP; BONE; ETHNOLOGY; EXON; GENETICS; HETEROZYGOTE; METABOLISM; PATHOLOGY; PEDIGREE; POINT MUTATION;

5' UNTRANSLATED REGIONS; ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BONE AND BONES; CHILD; CHILD, PRESCHOOL; EXONS; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; OSTEOGENESIS IMPERFECTA; PEDIGREE; PHENOTYPE; POINT MUTATION;

EID: 84882730967     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0072337     Document Type: Article

References (38)

1. Forlino A, Cabral WA, Barnes AM, Marini JC, (2011) New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol 7: 540-557.
2. Rauch F, Glorieux FH, (2004) Osteogenesis imperfecta. Lancet 363: 1377-1385.
3. Glorieux FH, (2008) Osteogenesis imperfecta. Best Pract Res Clin Rheumatol 22: 85-100.
4. Cundy T, (2012) Recent advances in osteogenesis imperfecta. Calcif Tissue Int 90: 439-449.
5. Sillence DO, (2012) Osteogenesis imperfecta nosology and genetics. Ann N Y Acad Sci 543: 1-15.
6. Barbosa-Buck CO, Orioli IM, da Graca Dutra M, Lopez-Camelo J, Castilla EE, et al. (2012) Clinical epidemiology of skeletal dysplasias in South America. Am J Med Genet A 158A: 1038-1045.
7. Stevenson DA, Carey JC, Byrne JL, Srisukhumbowornchai S, Feldkamp ML, (2012) Analysis of skeletal dysplasias in the Utah population. Am J Med Genet A 158A: 1046-1054.
8. Sillence DO, Senn A, Danks DM, (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16: 101-116.
9. Zhang ZL, Zhang H, Ke YH, Yue H, Xiao WJ, et al. (2012) The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. J Bone Miner Metab 30: 69-77.
10. Cohn DH, Byers PH, Steinmann B, Gelinas RE, (1986) Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. Proc Natl Acad Sci U S A 83: 6045-6047.
11. Dickson LA, Pihlajaniemi T, Deak S, Pope FM, Nicholls A, et al. (1984) Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta. Proc Natl Acad Sci U S A 81: 4524-4528.
12. Becker J, Semler O, Gilissen C, Li Y, Bolz HJ, et al. (2011) Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 88: 362-371.
13. Morello R, Bertin TK, Chen Y, Hicks J, Tonachini L, et al. (2006) CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 127: 291-304.
14. van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, et al. (2009) PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet 85: 521-527.
15. Christiansen HE, Schwarze U, Pyott SM, AlSwaid A, Al Balwi M, et al. (2010) 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: 389-398.
16. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, et al. (2010) Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 86: 551-559.
17. Martinez-Glez V, Valencia M, Caparros-Martin JA, Aglan M, Temtamy S, et al. (2012) Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat 33: 343-350.
18. Asharani PV, Keupp K, Semler O, Wang W, Li Y, et al. (2012) Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. Am J Hum Genet 90: 661-674.
19. Pyott SM, Tran TT, Leistritz DF, Pepin MG, Mendelsohn NJ, et al. (2013) WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta. Am J Hum Genet doi:pii: S0002-9297(13)00081-5. 10.1016/j.ajhg.2013.02.009.
20. Keupp K, Beleggia F, Kayserili H, Barnes AM, Steiner M, et al. (2013) Mutations in WNT1 Cause Different Forms of Bone Fragility. Am J Hum Genet doi:pii: S0002-9297(13)00082-7. 10.1016/j.ajhg.2013.02.010.
21. Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, et al. (2000) Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 15: 1650-1658.
22. Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, et al. (2012) A Single Recurrent Mutation in the 5'-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V. Am J Hum Genet 91: 343-348.
23. Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, et al. (2012) 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. Am J Hum Genet 91: 349-357.
24. Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, et al. (2013) Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients. J Med Genet 50: 21-24.
25. Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, et al. (2013) Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. doi: 10.1002/jbmr.1891.
26. Li R, Li Y, Kristiansen K, Wang J, (2008) SOAP: short oligonucleotide alignment program. Bioinformatics 24: 713-714.
27. Zhang Z, Xia W, He J, Zhang Z, Ke Y, et al. (2012) Exome sequencing identifies SLCO2A1 mutations as a cause of primary hypertrophic osteoarthropathy. Am J Hum Genet 90: 125-132.
28. Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, et al. (2010) Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet 42: 969-972.
29. Shi Y, Li Y, Zhang D, Zhang H, Lu F, et al. (2011) Exome sequencing identifies ZNF644 mutations in high myopia. PLoS Genet 7: e1002084.
30. Wang JL, Yang X, Xia K, Hu ZM, Weng L, et al. (2010) TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing. Brain 133: 3510-3518.
31. Yi X, Liang Y, Huerta-Sanchez E, Jin X, Cuo ZX, et al. (2010) Sequencing of 50 human exomes reveals adaptation to high altitude. Science 329: 75-78.
32. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249.
33. Cheung MS, Glorieux FH, Rauch F, (2007) Natural history of hyperplastic callus formation in osteogenesis imperfecta type V. J Bone Miner Res 22: 1181-1186.
34. Moffatt P, Gaumond MH, Salois P, Sellin K, Bessette MC, et al. (2008) Bril: a novel bone-specific modulator of mineralization. J Bone Miner Res 23: 1497-1508.
35. Hickford D, Frankenberg S, Shaw G, Renfree MB, (2012) Evolution of vertebrate interferon inducible transmembrane proteins. BMC Genomics 13: 155.
36. Sallman Almen M, Bringeland N, Fredriksson R, Schioth HB, (2012) The dispanins: a novel gene family of ancient origin that contains 14 human members. PLoS One 7: e31961.
37. Hanagata N, Li X, Morita H, Takemura T, Li J, et al. (2011) Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice. J Bone Miner Metab 29: 279-290.
38. Nakashima K, Zhou X, Kunkel G, Zhang Z, Deng JM, et al. (2002) The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. Cell 108: 17-29.