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| Item Type: | Article |
|---|---|
| Title: | CACNB3 defects are associated with infantile idiopathic nystagmus |
| Creators Name: | Jüschke, Christoph, Linsel, Kira, Owczarek-Lipska, Marta, Brandt, Nicola, Zunken, Sarah, Altmüller, Janine, Preising, Markus N., Kastrati, Dennis, Thiele, Holger, Thomas, Mervyn G., Nürnberg, Peter, Lorenz, Birgit, Kellner, Ulrich, Bräuer, Anja U., Korenke, G. Christoph, Gottlob, Irene and Neidhardt, John |
| Abstract: | Infantile nystagmus (IN) is a common neuro-ophthalmological disorder that presents as early-onset involuntary oscillations of the eyes. Here, we report a novel genotype-phenotype correlation that associates sequence alterations in the calcium voltage-gated channel auxiliary subunit beta 3 (CACNB3) gene, encoding the CaVβ3 protein, with idiopathic infantile nystagmus (IIN). Linkage analysis, whole exome and Sanger sequencing identified a homozygous missense mutation (c.316G>C) in CACNB3 co-segregating with IIN. Our calcium imaging experiments suggest that the p.Gly106Arg mutation in the Src homology 3 domain of CaVβ3 may impair voltage-gated calcium channel function at the plasma membrane and may increase ligand-triggered inositol trisphosphate receptor mediated calcium release at the endoplasmic reticulum. Co-localization studies indicate reduced plasma membrane localization of the calcium channel. We propose CACNB3 to be a novel gene associated with IIN. Our findings point towards an important role of calcium-signalling in IIN and may contribute to deciphering its aetiology. |
| Keywords: | Idiopathic Congenital Nystagmus, Idiopathic Infantile Nystagmus (IIN), Voltage-Gated Ca(2+) Channel (VGCC), High-Voltage Activated Calcium Channel, Ca(V)β subunit |
| Source: | Brain Communications |
| ISSN: | 2632-1297 |
| Publisher: | Oxford University Press |
| Volume: | 8 |
| Number: | 2 |
| Page Range: | fcag034 |
| Date: | 7 February 2026 |
| Official Publication: | https://doi.org/10.1093/braincomms/fcag034 |
| PubMed: | View item in PubMed |
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