A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect

Bone

Volumn 50, Issue 1, 2012, Pages 343-349

  Venturi, Giacomo ^a   Monti, Elena ^a   Dalle Carbonare, Luca ^a   Corradi, Massimiliano ^a   Gandini, Alberto ^a   Valenti, Maria Teresa ^a   Boner, Attilio ^a   Antoniazzi, Franco ^a  

^a UNIVERSITY OF VERONA   (Italy)

Author keywords

Biphosphonate; Bone; COL1A1; Collagen; FKBP10; Fractures

Indexed keywords

ALKALINE PHOSPHATASE BONE ISOENZYME; BINDING PROTEIN; BISPHOSPHONIC ACID DERIVATIVE; CALCIFEDIOL; CALCIUM; CARBOXY TERMINAL TELOPEPTIDE; COLLAGEN TYPE 1; FK 506 BINDING PROTEIN 10; IRON COMPLEX; NERIDRONIC ACID; PARATHYROID HORMONE; PROLYL 3 HYDROXYLASE COMPLEX; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DEMINERALIZATION; BRACE; BRACHIAL PLEXUS; CASE REPORT; CHILD; CLAVICLE FRACTURE; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE SEVERITY; DUAL ENERGY X RAY ABSORPTIOMETRY; FIBROBLAST; GENE EXPRESSION; GENE MUTATION; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INTRON; IRON THERAPY; KYPHOSCOLIOSIS; MALE; MORPHOMETRICS; MYOPIA; OSTEOGENESIS IMPERFECTA; OSTEOPENIA; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PROTEIN FOLDING; PROTEIN PROCESSING; REAL TIME POLYMERASE CHAIN REACTION; RNA PROCESSING; SCOLIOSIS;

CALCIFICATION, PHYSIOLOGIC; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE I; DNA MUTATIONAL ANALYSIS; HUMANS; MALE; MUTATION; OSTEOGENESIS IMPERFECTA; RNA SPLICING; TACROLIMUS BINDING PROTEINS;

EID: 82655170886     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2011.10.023     Document Type: Article

References (33)

1. Rauch F., Glorieux F.H. Osteogenesis imperfecta. Lancet 2004, 363:1377-1385.
2. Marini J.C., Forlino A., Cabral W.A., Barnes A.M., San Antonio J.D., Milgrom S., 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.
3. Venturi G., Tedeschi E., Mottes M., Valli M., Camilot M., Viglio S., et al. Osteogenesis imperfecta: clinical, biochemical and molecular findings. Clin Genet 2006, 70:131-139.
4. Rauch F., Lalic L., Roughley P., Glorieux F.H. Relationship between genotype and skeletal phenotype in children and adolescents with osteogenesis imperfecta. J Bone Miner Res 2010, 25:1367-1374.
5. Glorieux F.H., Ward L.M., Rauch F., Lalic L., Roughley P.J., Travers R. Osteogenesis Imperfecta type VI: a form of brittle bone disease with a mineralization defect. J Bone Miner Res 2002, 17:30-38.
6. Baldridge D., Schwarze U., Morello R., Lennington J., Bertin T.K., Pace J.M., et al. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat 2008, 29:1435-1442.
7. Van Dijk F.S., Pals G., Van Rijn R.R., Nikkels P.G., Cobben J.M. Classification of osteogenesis imperfecta revisited. Eur J Med Genet 2010, 53:1-5.
8. Marini J.C., Cabral W.A., Barnes A.M. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. Cell Tissue Res 2010, 339:59-70.
9. Lapunzina P., Aglan M., Temtamy S., Caparrós-Martín J.A., Valencia M., Letón R., et al. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. Am J Hum Genet 2010, 87:110-114.
10. Becker J., Semler O., Gilissen C., Li Y., Bolz H.J., Giunta C., et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2011, 88:362-371.
11. Homan E.P., Rauch F., Grafe I., Lietman C., Doll J.A., Dawson B., et al. Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res 2011 Aug 8, [Epub ahead of print]. 10.1002/jbmr.487.
12. Ward L.M., Rauch F., Travers R., Chabot G., Azouz E.M., Lalic L., et al. Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease. Bone 2002, 31:12-18.
13. Labuda M., Morissette J., Ward L.M., Rauch F., Lalic L., Roughley P.J., et al. Osteogenesis imperfecta type VII maps to the short arm of chromosome 3. Bone 2002, 31:19-25.
14. Morello R., Bertin T.K., Chen Y., Hicks J., Tonachini L., Monticone M., et al. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta. Cell 2006, 127:291-304.
15. Barnes A.M., Chang W., Morello R., Cabral W.A., Weis M., Eyre D.R., et al. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta. N Engl J Med 2006, 355:2757-2764.
16. Cabral W.A., Chang W., Barnes A.M., Weis M., Scott M.A., Leikin S., et al. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. Nat Genet 2007, 39:359-365.
17. Willaert A., Malfait F., Symoens S., Gevaert K., Kayserili H., Megarbane A., et al. Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl-3-hydroxylation. J Med Genet 2009, 46:233-241.
18. Barnes A.M., Carter E.M., Cabral W.A., Weis M., Chang W., Makareeva E., et al. Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. N Engl J Med 2010, 362:521-528.
19. van Dijk F.S., Nesbitt I.M., Zwikstra E.H., Nikkels P.G., Piersma S.R., Fratantoni S.A., et al. PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet 2009, 85:521-527.
20. Christiansen H.E., Schwarze U., Pyott S.M., AlSwaid A., Al Balwi M., Alrasheed S., 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.
21. Alanay Y., Avaygan H., Camacho N., Utine G.E., Boduroglu K., Aktas D., et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 2010, 86:551-559.
22. Monti E., Mottes M., Fraschini P., Brunelli P., Forlino A., Venturi G., et al. Current and emerging treatments for the management of osteogenesis imperfecta. Ther Clin Risk Manage 2010, 6:367-381.
23. Glorieux F.H. Experience with bisphosphonates in osteogenesis imperfecta. Pediatrics 2007, 119:S163-S165.
24. Phillipi C.A., Remmington T., Steiner R.D. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev 2008, 4:CD005088.
25. Forlino A., Kuznetsova N.V., Leikin S. Selective retention and degradaton of molecules with a single mutant α 1(I) chain in the Brtl IV mouse model of OI. Matrix Biol 2007, 26:604-614.
26. Parfitt A.M., Drezner M.K., Glorieux F.H., Kanis J.A., Malluche H., Meunier P.J., et al. Bone histomorphometry: standardization of nomenclature, symbols, and units. J Bone Miner Res 1987, 6:595-610.
27. Glorieux F.H., Travers R., Taylor A., et al. Normative data for iliac bone histomorphometry in growing children. Bone 2000, 26:103-109.
28. Shaheen R., Al-Owain M., Faqih E., Al-Hashmi N., Awaji A., Al-Zayed Z., et al. Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans. Am J Med Genet A 2011, 155:1448-1452.
29. Kelley B.P., Malfait F., Bonafe L., Baldridge D., Homan E., Symoens S., et al. Mutations in FKBP10 cause recessive osteogenesis imperfecta and type 1 Bruck syndrome. J Bone Miner Res September 13 2010, [published online ahead of print]. 10.1002/jbmr.250.
30. Shaheen R., Al-Owain M., Sakati N., Alzayed Z.S., Alkuraya F.S. FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?. Am J Hum Genet 2010, 87:306-307.
31. Land C., Rauch F., Travers R., Glorieux F.H. Osteogenesis imperfecta type VI in childhood and adolescence: effects of cyclical intravenous pamidronate treatment. Bone 2007, 40:638-644.
32. Ishikawa Y., Vranka J., Wirz J., Nagata K., Bächinger H.P. The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens. J Biol Chem 2008, 283:31584-31590.
33. Ishida Y., Kubota H., Yamamoto A., Kitamura A., Bächinger H.P., Nagata K., et al. 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.