Growth/differentiation factor 5
The GDF5 gene encodes a secreted protein that binds to various TGF-bete receptors and regulates development of bones and joints. Mutations cause various autosomal dominant and recessive disorders of the skeletal system.
Genetests:
Related Diseases:
References:
1. |
Hötten G et al. (1994) Cloning and expression of recombinant human growth/differentiation factor 5.
|
2. |
Szczaluba K et al. (2005) Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.
|
3. |
Douzgou S et al. (2008) Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.
|
4. |
Dawson K et al. (2006) GDF5 is a second locus for multiple-synostosis syndrome.
|
5. |
Miyamoto Y et al. (2007) A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.
|
6. |
Masuya H et al. (2007) A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.
|
7. |
Dodd AW et al. (2013) A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression.
|
8. |
Wang X et al. (2006) A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.
|
9. |
Chang SC et al. (1994) Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development.
|
10. |
Thomas JT et al. (1997) Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.
|
11. |
Storm EE et al. (1996) Joint patterning defects caused by single and double mutations in members of the bone morphogenetic protein (BMP) family.
|
12. |
Tsumaki N et al. (1999) Role of CDMP-1 in skeletal morphogenesis: promotion of mesenchymal cell recruitment and chondrocyte differentiation.
|
13. |
Triantafilou K et al. (2001) A CD14-independent LPS receptor cluster.
|
14. |
Faiyaz-Ul-Haque M et al. (2002) Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.
|
15. |
Settle SH et al. (2003) Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes.
|
16. |
Al-Yahyaee SA et al. (2003) Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.
|
17. |
Sartori R et al. (2013) BMP signaling controls muscle mass.
|
18. |
Robin NH et al. (1997) Clinical and locus heterogeneity in brachydactyly type C.
|
19. |
Lin K et al. (1996) Assignment of a new TGF-beta superfamily member, human cartilage-derived morphogenetic protein-1, to chromosome 20q11.2.
|
20. |
Hunter AG et al. (1976) Acromesomelic dwarfism: description of a patient and comparison with previously reported cases.
|
21. |
Langer LO et al. (1989) A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.
|
22. |
Thomas JT et al. (1996) A human chondrodysplasia due to a mutation in a TGF-beta superfamily member.
|
23. |
Seemann P et al. (2005) Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
|
24. |
Plöger F et al. (2008) Brachydactyly type A2 associated with a defect in proGDF5 processing.
|
25. |
Polinkovsky A et al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C.
|
26. |
Everman DB et al. (2002) The mutational spectrum of brachydactyly type C.
|
27. |
Savarirayan R et al. (2003) Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.
|
28. |
None (1963) Inherited brachydactyly and hypoplasia of the bones of the extremities.
|
29. |
Schwabe GC et al. (2004) Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.
|
30. |
Yang W et al. (2008) Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.
|
31. |
Byrnes AM et al. (2010) Mutations in GDF5 presenting as semidominant brachydactyly A1.
|
32. |
Kjaer KW et al. (2006) A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.
|
33. |
Storm EE et al. (1994) Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily.
|
34. |
Faiyaz-Ul-Haque M et al. (2002) Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).
|
35. |
Orphanet article
Orphanet ID 122066
|
36. |
NCBI article
NCBI 8200
|
37. |
OMIM.ORG article
Omim 601146
|
38. |
Wikipedia article
Wikipedia EN (GDF5)
|
Update: Aug. 14, 2020