CACNA1C-related disorders

Short description: Genetic disorders

CACNA1C-related disorders are a group of rare diseases caused by variants in the CACNA1C gene, which encodes a subunit of the L-type voltage-dependent calcium channel. Genomic sequencing has linked a number of heterogenous phenotypes to pathogenic variants in the CACNA1C gene:[1]

* Timothy syndrome, which may or may not occur with syndactyly
* Short QT syndrome or Brugada syndrome
* Long QT syndrome or other arrhythmia without additional symptoms.[2]

CACNA1C-related disorders are inherited in an autosomal dominant manner.[2] Symptoms of CACNA1C-related disorders are primarily neurological[3] and may include developmental delay, autism or autistic features, and seizures.[1] Facial dysmorphism may also be present.[4]

## References

1. ↑ 1.0 1.1 Levy, Rebecca J.; Timothy, Katherine W.; Underwood, Jack F.G.; Hall, Jeremy; Bernstein, Jonathan A.; Pașca, Sergiu P. (January 2023). "A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder" (in en). Pediatric Neurology 138: 101–106. doi:10.1016/j.pediatrneurol.2022.10.013. PMID 36436328. https://linkinghub.elsevier.com/retrieve/pii/S0887899422002296.
2. ↑ 2.0 2.1 Napolitano, Carlo; Timothy, Katherine W.; Bloise, Raffaella; Priori, Silvia G. (1993), Adam, Margaret P.; Everman, David B.; Mirzaa, Ghayda M. et al., eds., "CACNA1C-Related Disorders", GeneReviews® (Seattle (WA): University of Washington, Seattle), PMID 20301577, http://www.ncbi.nlm.nih.gov/books/NBK1403/, retrieved 2022-12-12
3. ↑ Rodan, Lance H.; Spillmann, Rebecca C.; Kurata, Harley T.; Lamothe, Shawn M.; Maghera, Jasmine; Jamra, Rami Abou; Alkelai, Anna; Antonarakis, Stylianos E. et al. (October 2021). "Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations" (in en). Genetics in Medicine 23 (10): 1922–1932. doi:10.1038/s41436-021-01232-8. PMID 34163037.
4. ↑ Bauer, Rosemary; Timothy, Katherine W.; Golden, Andy (2021-05-17). "Update on the Molecular Genetics of Timothy Syndrome". Frontiers in Pediatrics 9: 668546. doi:10.3389/fped.2021.668546. ISSN 2296-2360. PMID 34079780.

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