Expanding the phenotype of CACNA1C mutation disorders.

ABSTRACT:

Background

Pathogenic variants in the L-type Ca²⁺ channel gene CACNA1C cause a multi-system disorder that includes severe long QT syndrome (LQTS), congenital heart disease, dysmorphic facial features, syndactyly, abnormal immune function, and neuropsychiatric disorders, collectively known as Timothy syndrome. In 2015, a variant in CACNA1C (p.R518C) was reported to cause cardiac-only Timothy syndrome, a genetic disorder with a mixed phenotype of congenital heart disease, hypertrophic cardiomyopathy (HCM), and LQTS that lacked extra-cardiac features. We have identified a family harboring the p.R518C pathogenic variant with a wider spectrum of clinical manifestations.

Methods

A four-generation family harboring the p.R518C pathogenic variant was reviewed in detail. Th

SUBMITTER: Gakenheimer-Smith L 

PROVIDER: S-EPMC8222832 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature