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
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
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.

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

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2.

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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3.

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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4.

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

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5.

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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6.

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

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7.

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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8.

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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9.

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

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10.

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

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11.

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

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12.

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

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13.

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

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14.

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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15.

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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16.

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

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17.

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

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18.

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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19.

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

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20.

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

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21.

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

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22.

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

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23.

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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24.

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

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25.

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

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26.

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

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27.

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

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28.

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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29.

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

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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.

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31.

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

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32.

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

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33.

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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34.

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

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Update: Sept. 26, 2018