Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Wachstums- und Differenzierungsfaktor 5

Das GDF5-Gen kodiert ein sezerniertes Signalpeptid, welches an verschiedene TGF-beta-Rezeptoren Bindet und in die Steuerung der Ausbildung des Skelettsystems eingebunden ist. Mutationen führen zu verschiedenen autosomal dominanten oder rezessiven Erkrankungen des Skelettsystems.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Akromesomele Dysplasie Typ Hunter-Thompson
GDF5
Brachydaktylie Typ A1, C
GDF5
Brachydaktylie Typ C
GDF5
Akromesomele Dysplasie Typ Grebe
GDF5
Fibula-Aplasie - komplexe Brachydaktylie
GDF5
Multiple Synostosen 2
GDF5
Proximaler Symphalangismus 1B
GDF5
Osteoarthritis-Neigung 5
GDF5

Referenzen:

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: 31. März 2018