Publication: Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy
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Wycisk, K. A., Zeitz, C., Feil, S., Wittmer, M., Forster, U., Neidhardt, J., Wissinger, B., Zrenner, E., Wilke, R., Kohl, S., & Berger, W. (2006). Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. American Journal of Human Genetics, 79(5), 973–977. https://doi.org/10.1086/508944
Abstract
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Abstract
Retinal signal transmission depends on the activity of high voltage-gated l-type calcium channels in photoreceptor ribbon synapses. We recently identified a truncating frameshift mutation in the Cacna2d4 gene in a spontaneous mouse mutant with profound loss of retinal signaling and an abnormal morphology of ribbon synapses in rods and cones. The Cacna2d4 gene encodes an l-type calcium-channel auxiliary subunit of the alpha (2) delta type. Mutations in its human orthologue, CACNA2D4, were not yet known to be associated with a disease.
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- Wycisk, K A
- Zeitz, C
- Feil, S
- Wittmer, M
- Forster, U
- Neidhardt, J
- Wissinger, B
- Zrenner, E
- Wilke, R
- Kohl, S
- Berger, W
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Wycisk, K. A., Zeitz, C., Feil, S., Wittmer, M., Forster, U., Neidhardt, J., Wissinger, B., Zrenner, E., Wilke, R., Kohl, S., & Berger, W. (2006). Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. American Journal of Human Genetics, 79(5), 973–977. https://doi.org/10.1086/508944