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:{{Cite journal |last1=Levy |first1=Rebecca J. |last2=Timothy |first2=Katherine W. |last3=Underwood |first3=Jack F.G. |last4=Hall |first4=Jeremy |last5=Bernstein |first5=Jonathan A. |last6=Pașca |first6=Sergiu P. |date=January 2023 |title=A Cross-Sectional Study of the Neuropsychiatric Phenotype of CACNA1C-Related Disorder |url=https://linkinghub.elsevier.com/retrieve/pii/S0887899422002296 |journal=Pediatric Neurology |language=en |volume=138 |pages=101–106 |doi=10.1016/j.pediatrneurol.2022.10.013|pmid=36436328 }}

• 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.{{Citation |last1=Napolitano |first1=Carlo |title=CACNA1C-Related Disorders |date=1993 |url=http://www.ncbi.nlm.nih.gov/books/NBK1403/ |work=GeneReviews® |editor-last=Adam |editor-first=Margaret P. |place=Seattle (WA) |publisher=University of Washington, Seattle |pmid=20301577 |access-date=2022-12-12 |last2=Timothy |first2=Katherine W. |last3=Bloise |first3=Raffaella |last4=Priori |first4=Silvia G. |editor2-last=Everman |editor2-first=David B. |editor3-last=Mirzaa |editor3-first=Ghayda M. |editor4-last=Pagon |editor4-first=Roberta A.}}

CACNA1C-related disorders are inherited in an autosomal dominant manner. Symptoms of CACNA1C-related disorders are primarily neurological{{Cite journal |last1=Rodan |first1=Lance H. |last2=Spillmann |first2=Rebecca C. |last3=Kurata |first3=Harley T. |last4=Lamothe |first4=Shawn M. |last5=Maghera |first5=Jasmine |last6=Jamra |first6=Rami Abou |last7=Alkelai |first7=Anna |last8=Antonarakis |first8=Stylianos E. |last9=Atallah |first9=Isis |last10=Bar-Yosef |first10=Omer |last11=Bilan |first11=Frédéric |last12=Bjorgo |first12=Kathrine |last13=Blanc |first13=Xavier |last14=Van Bogaert |first14=Patrick |last15=Bolkier |first15=Yoav |date=October 2021 |title=Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations |journal=Genetics in Medicine |language=en |volume=23 |issue=10 |pages=1922–1932 |doi=10.1038/s41436-021-01232-8 |pmc=8488020 |pmid=34163037}} and may include developmental delay, autism or autistic features, and seizures. Facial dysmorphism may also be present.{{Cite journal |last1=Bauer |first1=Rosemary |last2=Timothy |first2=Katherine W. |last3=Golden |first3=Andy |date=2021-05-17 |title=Update on the Molecular Genetics of Timothy Syndrome |journal=Frontiers in Pediatrics |volume=9 |pages=668546 |doi=10.3389/fped.2021.668546 |issn=2296-2360 |pmc=8165229 |pmid=34079780|doi-access=free }}