Article
Expanding the phenotype of CACNA1C mutation disorders.
Molecular genetics & genomic medicine - 1 Jun 2021
Gakenheimer-Smith Lindsey, Meyers Lindsay, Lundahl Derek, Menon Shaji C, Bunch T Jared, Sawyer Briana L, Tristani-Firouzi Martin, Etheridge Susan P
Abstract excerpt
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...
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