Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Acromesomelic dysplasia, Hunter-Thompson type
GDF5
Brachydactyly type A1, C
GDF5
Brachydactyly type C
GDF5
Acromesomelic dysplasia, Grebe type
GDF5
Fibular aplasia-complex brachydactyly syndrome
GDF5
Multiple synostoses syndrome 2
GDF5
Proximal symphalangism 1B
GDF5
Osteoarthritis susceptibility 5
GDF5

References:

1.

Lin K et al. (1996) Assignment of a new TGF-beta superfamily member, human cartilage-derived morphogenetic protein-1, to chromosome 20q11.2.

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2.

Thomas JT et al. (1997) Disruption of human limb morphogenesis by a dominant negative mutation in CDMP1.

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3.

Hunter AG et al. (1976) Acromesomelic dwarfism: description of a patient and comparison with previously reported cases.

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4.

Langer LO et al. (1989) A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type.

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5.

Thomas JT et al. (1996) A human chondrodysplasia due to a mutation in a TGF-beta superfamily member.

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6.

Seemann P et al. (2005) Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

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7.

Plöger F et al. (2008) Brachydactyly type A2 associated with a defect in proGDF5 processing.

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8.

Polinkovsky A et al. (1997) Mutations in CDMP1 cause autosomal dominant brachydactyly type C.

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9.

Everman DB et al. (2002) The mutational spectrum of brachydactyly type C.

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10.

Savarirayan R et al. (2003) Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

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11.

None (1963) Inherited brachydactyly and hypoplasia of the bones of the extremities.

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12.

Schwabe GC et al. (2004) Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

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13.

Yang W et al. (2008) Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism.

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14.

Byrnes AM et al. (2010) Mutations in GDF5 presenting as semidominant brachydactyly A1.

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15.

Kjaer KW et al. (2006) A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.

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16.

Storm EE et al. (1994) Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily.

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17.

Robin NH et al. (1997) Clinical and locus heterogeneity in brachydactyly type C.

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18.

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).

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19.

Szczaluba K et al. (2005) Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene.

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20.

Douzgou S et al. (2008) Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia.

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21.

Dawson K et al. (2006) GDF5 is a second locus for multiple-synostosis syndrome.

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22.

Miyamoto Y et al. (2007) A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.

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23.

Masuya H et al. (2007) A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.

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24.

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.

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25.

Wang X et al. (2006) A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.

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26.

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.

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27.

Hötten G et al. (1994) Cloning and expression of recombinant human growth/differentiation factor 5.

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28.

Storm EE et al. (1996) Joint patterning defects caused by single and double mutations in members of the bone morphogenetic protein (BMP) family.

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29.

Tsumaki N et al. (1999) Role of CDMP-1 in skeletal morphogenesis: promotion of mesenchymal cell recruitment and chondrocyte differentiation.

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30.

Triantafilou K et al. (2001) A CD14-independent LPS receptor cluster.

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31.

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.

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32.

Settle SH et al. (2003) Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes.

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33.

Al-Yahyaee SA et al. (2003) Clinical and molecular analysis of Grebe acromesomelic dysplasia in an Omani family.

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34.

Sartori R et al. (2013) BMP signaling controls muscle mass.

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35.

Orphanet article

Orphanet ID 122066 [^]
36.

NCBI article

NCBI 8200 [^]
37.

OMIM.ORG article

Omim 601146 [^]
38.

Wikipedia article

Wikipedia EN (GDF5) [^]
Update: April 29, 2019