Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Growth/differentiation factor 6

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

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:

Leber congenital amaurosis 17
GDF6

References:

1.

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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2.

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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3.

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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4.

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

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5.

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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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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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12.

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

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13.

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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Update: Sept. 26, 2018