Wachstums- und Differenzierungsfaktor 6
Das GDF6-Gen kodiert einen Liganden des TGF-beta. Mutationen verursachen autosomal rezessive Lebersche kongenitale Amaurose Typ 17.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
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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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. |
Asai-Coakwell M et al. (2013) Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
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5. |
Clarke RA et al. (1995) Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3).
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6. |
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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7. |
Hanel ML et al. (2006) Eye and neural defects associated with loss of GDF6.
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8. |
Asai-Coakwell M et al. (2007) GDF6, a novel locus for a spectrum of ocular developmental anomalies.
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9. |
Tassabehji M et al. (2008) Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
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10. |
Asai-Coakwell M et al. (2009) Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
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11. |
Ye M et al. (2010) Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
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12. |
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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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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14. |
Orphanet article
Orphanet ID 209481
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15. |
NCBI article
NCBI 392255
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16. |
OMIM.ORG article
Omim 601147
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Update: 14. August 2020