Osteogenesis imperfecta due to mutations in non-collagenous genes: Lessons in the biology of bone formation

Current Opinion in Pediatrics

Volumn 26, Issue 4, 2014, Pages 500-507

  Marini, Joan C ^a   Reich, Adi ^a   Smith, Simone M ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

bone dysplasia; collagen; OI; osteogenesis imperfecta; recessive osteogenesis imperfecta

Indexed keywords

CATION CHANNEL; CHAPERONE; COLLAGEN; COLLAGEN TYPE 1; CYCLOPHILIN B; FK 506 BINDING PROTEIN; HEAT SHOCK PROTEIN 47; OXYGENASE; PIGMENT EPITHELIUM DERIVED FACTOR; PROCOLLAGEN C PROTEINASE; TRANSCRIPTION FACTOR OSTERIX; WNT1 PROTEIN; BMP1 PROTEIN, HUMAN; CREB3L1 PROTEIN, HUMAN; CRTAP PROTEIN, HUMAN; CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN; CYCLOPHILIN; DIFFERENTIATION ANTIGEN; EYE PROTEIN; FKBP10 PROTEIN, HUMAN; IFITM5 PROTEIN, HUMAN; ION CHANNEL; LEPRE1 PROTEIN, HUMAN; LEU-13 ANTIGEN; MEMBRANE PROTEIN; NERVE GROWTH FACTOR; NERVE PROTEIN; PIGMENT EPITHELIUM-DERIVED FACTOR; PROTEOGLYCAN; SCLEROPROTEIN; SERINE PROTEINASE INHIBITOR; SERPINH1 PROTEIN, HUMAN; SP7 PROTEIN, HUMAN; TMEM38B PROTEIN, HUMAN; TRANSCRIPTION FACTOR; WNT1 PROTEIN, HUMAN;

ASTROCYTE; BONE DEVELOPMENT; BONE DYSPLASIA; BONE MINERALIZATION; COLLAGEN SYNTHESIS; CROSS LINKING; DEVELOPMENTAL BIOLOGY; GENE; GENE MUTATION; HUMAN; HYDROXYLATION; NONHUMAN; OSSIFICATION; OSTEOBLAST; OSTEOGENESIS IMPERFECTA; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN FOLDING; PROTEIN PROCESSING; REVIEW; GENETICS; MUTATION; PATHOLOGY;

ANTIGENS, DIFFERENTIATION; BONE MORPHOGENETIC PROTEIN 1; CYCLIC AMP RESPONSE ELEMENT-BINDING PROTEIN; CYCLOPHILINS; EXTRACELLULAR MATRIX PROTEINS; EYE PROTEINS; HSP47 HEAT-SHOCK PROTEINS; HUMANS; ION CHANNELS; MEMBRANE GLYCOPROTEINS; MEMBRANE PROTEINS; MUTATION; NERVE GROWTH FACTORS; NERVE TISSUE PROTEINS; OSTEOGENESIS; OSTEOGENESIS IMPERFECTA; PROTEOGLYCANS; SERPINS; TACROLIMUS BINDING PROTEINS; TRANSCRIPTION FACTORS; WNT1 PROTEIN;

EID: 84904504296     PISSN: 10408703     EISSN: 1531698X     Source Type: Journal    
DOI: 10.1097/MOP.0000000000000117     Document Type: Review

References (58)

1. Forlino A, Cabral WA, Barnes AM, Marini JC. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol 2011; 7:540-557.
2. Marini JC, Blissett AR. New genes in bone development: what's new in osteogenesis imperfecta. J Clin Endocrinol Metab 2013; 98:3095-3103.
3. Marini JC, Forlino A, Cabral WA, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat 2007; 28:209-221.
4. Glorieux FH, Moffatt P. Osteogenesis imperfecta, an ever-expanding conundrum. J Bone Miner Res 2013; 28:1519-1522.
5. Marini JC, Cabral WA, Barnes AM. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. Cell Tissue Res 2010; 339:59-70.
6. Marini JC, Cabral WA, Barnes AM, Chang W. Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development. Cell Cycle 2007; 6:1675-1681. (Pubitemid 47327916)
7. Martinez-Glez V, Valencia M, Caparros-Martin JA, et al. Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. Hum Mutat 2012; 33:343-350.
8. Prockop DJ, Kivirikko KI. Collagens: molecular-biology, diseases, and potentials for therapy. Annu Rev Biochem 1995; 64:403-434.
9. Lindahl K, Barnes AM, Fratzl-Zelman N, et al. COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. Hum Mutat 2011; 32:598-609.
10. Cabral WA, Makareeva E, Colige A, et al. Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. J Biol Chem 2005; 280:19259-19269. (Pubitemid 41379633)
11. Baldridge D, Schwarze U, Morello R, et al. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat 2008; 29:1435-1442. (Pubitemid 352774897)
12. Barnes AM, Carter EM, Cabral WA, et al. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med 2010; 362:521-528.
13. Barnes AM, Chang W, Morello R, et al. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 2006; 355:2757-2764. (Pubitemid 46021513)
14. Cabral WA, Chang W, Barnes AM, et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet 2007; 39:359-365. (Pubitemid 46328489)
15. Morello R, Bertin TK, Chen Y, et al. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 2006; 127:291-304. (Pubitemid 44604299)
16. Ishikawa Y, Wirz J, Vranka JA, et al. Biochemical characterization of the prolyl 3-hydroxylase 1. cartilage-associated protein. Cyclophilin B complex. J Biol Chem 2009; 284:17641-17647.
17. Chang W, Barnes AM, Cabral WA, et al. Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex. Hum Mol Genet 2010; 19:223-234.
18. Obafemi AA, Bulas DI, Troendle J, Marini JC. Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation. Am J Med Genet A 2008; 146A:2725-2732.
19. Cabral WA, Barnes AM, Adeyemo A, et al. A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta. Genet Med 2012; 14:543-551.
20. Glorieux FH, Rauch F, Plotkin H, et al. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res 2000; 15:1650-1658. (Pubitemid 30666219)
21. Glorieux FH, Ward LM, Rauch F, et al. Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res 2002; 17:30-38. (Pubitemid 33150994)
22. 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. (Pubitemid 351339700)
23. Roughley PJ, Rauch F, Glorieux FH. Osteogenesis imperfecta: clinical and molecular diversity. Eur Cell Mater 2003; 5:41-47. (Pubitemid 38957400)
24. Moffatt P, Gaumond MH, Salois P, et al. BRIL: a novel bone-specific modulator of mineralization. J Bone Miner Res 2008; 23:1497-1508.
25. Cho TJ, Lee KE, Lee SK, 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.
26. Semler O, Garbes L, Keupp K, et al. A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteo-genesis imperfecta type V with hyperplastic callus. Am J Hum Genet 2012; 91:349-357.
27. Becker J, Semler O, Gilissen C, et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteo-genesis imperfecta. Am J Hum Genet 2011; 88:362-371.
28. Homan EP, Rauch F, Grafe I, et al. Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res 2011; 26:2798-2803.
29. Becerra SP, Notario V. The effects of PEDF on cancer biology: mechanisms of action and therapeutic potential. Nat Rev Cancer 2013; 13:258-271.
30. Sekiya A, Okano-Kosugi H, Yamazaki CM, Koide T. Pigment epithelium-derived factor (PEDF) shares binding sites in collagen with heparin/heparan sulfate proteoglycans. J Biol Chem 2011; 286: 26364-26374.
31. Rauch F, Husseini A, Roughley P, et al. Lack of circulating pigment epithelium-derived factor is a marker of osteogenesis imperfecta type VI. J Clin Endocrinol Metab 2012; 97:E1550-E1556.
32. Venturi G, Gandini A, Monti E, et al. Lack of expression of SERPINF1, the gene coding for pigment epithelium-derived factor, causes progressively deforming osteogenesis imperfecta with normal type I collagen. J Bone Miner Res 2012; 27:723-728.
33. Farber CR, Reich A, Barnes AM, et al. A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. J Bone Miner Res 2014; 29:1402-1411.
34. Guillen-Navarro E, Ballesta-Martinez MJ, Valencia M, et al. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. Am J Med Genet A 2014; 164:1136-1142.
35. Hoyer-Kuhn H, Semler O, Garbes L, et al. A non-classical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset. J Bone Miner Res 2014; 29:1387-1391.
36. Zeng B, MacDonald JR, Bann JG, et al. Chicken FK506-binding protein, FKBP65, a member of the FKBP family of peptidylprolyl cis-trans isomer-ases, is only partially inhibited by FK506. Biochem J 1998; 330:109-114. (Pubitemid 28076870)
37. Drogemuller C, Becker D, Brunner A, et al. A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta. PLoS Genet 2009; 5:e1000579.
38. Christiansen HE, Schwarze U, Pyott SM, et al. Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta. Am J Hum Genet 2010; 86:389-398.
39. Nagai N, Hosokawa M, Itohara S, et al. Embryonic lethality of molecular chaperone hsp47 knockout mice is associated with defects in collagen biosynthesis. J Cell Biol 2000; 150:1499-1506.
40. Ishida Y, Kubota H, Yamamoto A, et al. Type I collagen in Hsp47-null cells is aggregated in endoplasmic reticulum and deficient in N-propeptide processing and fibrillogenesis. Mol Biol Cell 2006; 17:2346-2355. (Pubitemid 44011749)
41. Alanay Y, Avaygan H, Camacho N, et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2010; 86:551-559.
42. Kelley BP, Malfait F, Bonafe L, et al. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res 2011; 26:666-672.
43. Puig-Hervas MT, Temtamy S, Aglan M, et al. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-osteogenesis imperfecta phenotypic spectrum. Hum Mutat 2012; 33:1444-1449.
44. Barnes AM, Duncan G, Weis M, et al. Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations. Hum Mutat 2013; 34:1279-1288.
45. Schwarze U, Cundy T, Pyott SM, et al. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. Hum Mol Genet 2013; 22:1-17.
46. Lapunzina P, Aglan M, Temtamy S, et al. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet 2010; 87:110-114.
47. Nakashima K, Zhou X, Kunkel G, et al. The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. Cell 2002; 108:17-29. (Pubitemid 34137009)
48. Fahiminiya S, Majewski J, Mort J, et al. Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet 2013; 50:345-348.
49. Keupp K, Beleggia F, Kayserili H, et al. Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet 2013; 92:565-574.
50. Laine CM, Joeng KS, Campeau PM, et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med 2013; 368:1809-1816.
51. Pyott SM, Tran TT, Leistritz DF, et al. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet 2013; 92:590-597.
52. Monroe DG, McGee-Lawrence ME, Oursler MJ, Westendorf JJ. Update on Wnt signaling in bone cell biology and bone disease. Gene 2012; 492: 1-18.
53. Faqeih E, Shaheen R, Alkuraya FS. WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype. J Med Genet 2013; 50:491-492.
54. Shaheen R, Alazami AM, Alshammari MJ, et al. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet 2012; 49:630-635.
55. Volodarsky M, Markus B, Cohen I, et al. A deletion mutation in TMEM38B associated with autosomal recessive osteogenesis imperfecta. Hum Mutat 2013; 34:582-586.
56. Zhou X, Lin P, Yamazaki D, et al. Trimeric intracellular cation channels and sarcoplasmic/endoplasmic reticulum calcium homeostasis. Circ Res 2014; 114:706-716.
57. Symoens S, Malfait F, D'Hondt S, et al. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans. Orphanet J Rare Dis 2013; 8:154.
58. Murakami T, Saito A, Hino S, et al. Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation. Nat Cell Biol 2009; 11:1205-1211.