Gap junction gamma-2 Protein
Das GJC2-Gen kodiert ein Protein des Zell-Zell-Kanals (gap junction). Mutationen führen zu autosomal dominantem hereditärem Lymphödem Typ 1c und zur rezessiven spastische Paraplegie 44 und hypomyelinisierte Leukodystrophy 2.
Gentests:
| Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
| Bearbeitungszeit |
5 Tage |
| Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
| 1. |
Nezu A et. al. () Pelizaeus-Merzbacher-like disease: female case report.
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| 2. |
Odermatt B et. al. (2003) Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.
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| 3. |
Menichella DM et. al. (2003) Connexins are critical for normal myelination in the CNS.
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| 4. |
Uhlenberg B et. al. (2004) Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
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| 5. |
Wolf NI et. al. (2007) Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.
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| 6. |
Salviati L et. al. (2007) A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.
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| 7. |
Orthmann-Murphy JL et. al. (2007) Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.
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| 8. |
Henneke M et. al. (2008) GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
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| 9. |
Orthmann-Murphy JL et. al. (2009) Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
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| 10. |
Diekmann S et. al. (2010) Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.
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| 11. |
Ferrell RE et. al. (2010) GJC2 missense mutations cause human lymphedema.
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| 12. |
Osaka H et. al. (2010) Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.
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| 13. |
Combes P et. al. (2012) Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.
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| 14. |
Ostergaard P et. al. (2011) Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype.
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| 15. |
Biancheri R et. al. (2013) Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
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| 16. |
Gotoh L et. al. (2014) GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
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Update: 26. September 2018
