CACNA1C-related 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]