A novel mutation of TGFβ1 in a Chinese family with Camurati-Engelmann disease

Bone

Volumn 40, Issue 6, 2007, Pages 1630-1634

  Wu, Songlin ^a   Liang, Shuyuan ^a   Yan, Yan ^a   Wang, Yuequn ^a   Li, Fang ^a   Deng, Yun ^a   Huang, Wen ^a   Yuan, Wuzhou ^a   Luo, Na ^a   Zhu, Chuanbing ^a   Wang, Ying ^a   Li, Yongqing ^a   Liu, Mingyao ^a   Wu, Xiushan ^a  

^a Key Lab of MOE for Development Biology and Protein Chemistry   (China)

Author keywords

Camurati Engelmann disease (CED); Mutation; Transforming growth factor beta 1 (TGF 1)

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA1;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAMURATI ENGELMANN SYNDROME; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; FEMALE; GENE MUTATION; HUMAN; MALE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CAMURATI-ENGELMANN SYNDROME; CHILD; EXONS; FAMILY; FEMALE; HUMANS; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; TRANSFORMING GROWTH FACTOR BETA1;

EID: 34248569298     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2007.02.025     Document Type: Article

References (27)

1. Lennon E.A., Schechter M.M., and Hornabrook R.W. Engelmann's disease. Report of a case with review of the literature. J. Bone Joint Surg. 43B (1961) 273-284
2. Campos-Xavier A.B., Saraiva J.M., Savarirayan R., Verloes A., Feingold J., Faivre L., et al. Phenotypic variability at TGFβ1 locus in Camurati-Engelmann disease. Hum. Genet. 109 6 (2001) 653-658
3. Ribbing S. Hereditary, multiple, diaphyseal sclerosis. Acta Radiol. 31 (1949) 522-536
4. Langdahl B.L., Knudsen J.Y., Jensen H.K., Gregersen N., and Ariksen E.F. A sequence variation: 713-8delC in the transforming growth factor-beta1 gene has higher prevalence in osteoporotic women than in normal women and is associated with very low bone mass in osteoporotic women and increased bone turnover in both osteoporotic and normal women. Bone 20 (1997) 289-294
5. Grainger D.G., Heathcote K., Chiano M., Snieder H., Kemp P.R., Metcalfe J.C., et al. Genetic control of circulating concentration of transforming growth factor type-1. Hum. Mol. Genet. 8 (1999) 93-97
6. Kinoshita A., Saito T., Tomita H.A., Makita Y., Yoshida K., Ghadami M., et al. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat. Genet. 26 (2000) 19-20
7. Xavier A.B., Saraiva J.M., Le Merrer M., Dagoneau N., Huber C., Penet C., et al. Genetic homogeneity of the Camurati-Engelmann disease. Clin. Genet. 58 (2000) 150-152
8. Janssens K., ten Dijke P., Ralston S.H., Bergmann C., and Van Hul W. Transforming growth factor-β1 mutation in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. Biol. Chem. 278 9 (2003) 7718-7724
9. Benichou O., Cleiren E., Gram J., Bollerslev J., de Vernejoul M.-C., and Van Hul W. Mapping of autosomal dominant osteopetrosis type II (Albers-Schonberg disease) to chromosome 16p13.3. Am. J. Hum. Genet. 69 (2001) 647-654
10. White K.E., Koller D.L., Takacs I., Buckwalter K.A., Foroud T., and Econs M.J. Locus heterogeneity of autosomal dominant osteopetrosis (ADO). J. Clin. Endocrinol. Metab. 84 (1999) 1047-1051
11. Johnston Jr. C.C., Lavy N., Lord T., Vellios F., Merritt A.D., and Deiss Jr. W.P. Osteopetrosis. A clinical, genetic, metabolic, and morphologic study of the dominantly inherited, benign form. Medicine (Baltimore) 47 (1968) 149-167
12. Jentsch T.J., Friedrich T., Schriever A., and Yamada H. The CLC chloride channel family. Pflugers Arch. 437 (1999) 783-795
13. Bénichou O.D., Van Hul E., Van Hul W., and de Vernejoul M.C. Exclusion of the chromosomal 1p21 region in a large pedigree with a phenotypic variant of type II autosomal dominant osteopetrosis. J. Bone Spine 68 (2001) 327-333
14. Theophilus B.D. Preparation and analysis of DNA sequencing gels. Methods Mol. Biol. 65 (1996) 1-9
15. Cleiren E., Benichou O., Van Hul E., Gram J., Bollerslev J., Singer F.R., et al. Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum. Mol. Genet. 10 (2001) 2861-2867
16. Gentry L.E., Lioubin M.N., Purchio A.F., and Marquardt H. Identification of mannose 6-phosphate in two asparagine-linked sugar chains of recombinant transforming growth factor-beta 1 precursor. J. Biol. Chem. 263 (1988) 14211-14215
17. Miyazono K., Hellman U., Wernstedt C., and Heldin C.-H. Latent high molecular weight complex of transforming growth factor beta 1. Purification from human platelets and structural characterization. J. Biol. Chem. 263 (1988) 6407-6415
18. Wakefield L.M., Smith D.M., Flanders K.C., and Sporn M.B. Latent transforming growth factor-beta from human platelets. A high molecular weight complex containing precursor sequences. J. Biol. Chem. 263 16 (1988) 7646-7654
19. Lyons R.M., Gentry L.E., Purchio A.F., and Moses H.L. Mechanism of activation of latent recombinant transforming growth factor beta 1 by plasmin. J. Cell Biol. 110 4 (1990) 1361-1367
20. Schultz-Cherry S., Chen H., Mosher D.F., Misenheimer T.M., Krutzsch H.C., Roberts D.D., et al. Regulation of transforming growth factor-β activation by discrete sequences of Thrombospondin 1. J. Biol. Chem. 270 13 (1995) 7304-7310
21. Saito T., Kinoshita A., Yoshiura K., Makita Y., Wakui K., Honke K., et al. Domain-specific mutations of transforming growth factor (TGF)-β1 latency-associated peptide cause Camurati-Engelmann disease because of formation of a constitutively active form of (TGF)-β1. J. Biol. Chem. 276 (2001) 11469-11721
22. Tzakas P., Wong B.Y.L., Logan A.G., Rubin L.A., and Cole D.E.C. Transforming growth factor beta-1 (TGFβ1) and peak bone mass: association between intragenic polymorphisms and quantitative ultrasound of the heel. BMC Musculoskelet. Disord. 6 (2005) 29
23. Centrella M., Horowitz M.C., Wozney J.M., and McCarthy T.L. Transforming growth factor-beta gene family members and bone. Endocr. Rev. 15 (1994) 27-39
24. Bonewald L.F., and Dallas S.L. Role of active and latent transforming growth factor beta in bone formation. J. Cell. Biochem. 55 (1994) 350-357
25. Sells Galvin R.J., Gatlin C.L., Horn J.W., and Fuson T.R. TGF-beta enhances osteoclast differentiation in hematopoietic cell cultures stimulated with RANKL and M-CSF. Biochem. Biophys. Res. Commun. 265 (1999) 233-239
26. Fuller K., Lean J.M., Bayley K.E., Wani M.R., and Chambers T.J. A role for TGFbeta (1) in osteoclast differentiation and survival. J. Cell Sci. 113 (2000) 2445-2453
27. Massey H.M., Scopes J., Horton M.A., and Flanagan A.M. Transforming growth factor-beta1 (TGF-beta) stimulates the osteoclast-forming potential of peripheral blood hematopoietic precursors in a lymphocyte-rich microenvironment. Bone 28 (2001) 577-582