Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

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.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
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.

external link
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.

external link
8.

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

external link
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.

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
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.

external link
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.

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

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

external link
25.

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

external link
26.

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

external link
27.

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

external link
28.

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

external link
29.

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

external link
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.

external link
31.

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

external link
32.

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

external link
33.

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

external link
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).

external link
35.

Orphanet article

Orphanet ID 122066 external link
36.

NCBI article

NCBI 8200 external link
37.

OMIM.ORG article

Omim 601146 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz