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Center for Nephrology and Metabolic Disorders
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Growth/differentiation factor 6

The GDF6 gene encodes a secreted ligand of TGF-beta. Mutations cause autosomal recessive Leber congenital amaurosis type 17.


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:

Leber congenital amaurosis 17



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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Banka S et al. (2015) Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.

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Zhang L et al. (2012) High temperature requirement factor A1 (HTRA1) gene regulates angiogenesis through transforming growth factor-β family member growth differentiation factor 6.

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Ye M et al. (2010) Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.

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Asai-Coakwell M et al. (2009) Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.

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Tassabehji M et al. (2008) Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

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Asai-Coakwell M et al. (2007) GDF6, a novel locus for a spectrum of ocular developmental anomalies.

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Hanel ML et al. (2006) Eye and neural defects associated with loss of GDF6.

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Wolfman NM et al. (1997) Ectopic induction of tendon and ligament in rats by growth and differentiation factors 5, 6, and 7, members of the TGF-beta gene family.

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Clarke RA et al. (1995) Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3).

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Asai-Coakwell M et al. (2013) Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.

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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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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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Orphanet article

Orphanet ID 209481 external link

NCBI article

NCBI 392255 external link

OMIM.ORG article

Omim 601147 external link

Wikipedia article

Wikipedia EN (GDF6) external link
Update: Aug. 14, 2020
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