A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects

Abstract excerpt

Timothy syndrome (TS) is a rare multisystem disorder associated with long QT syndrome (LQTS, type 8), congenital heart disease, syndactyly, dysmorphic facial features, and neurologic symptoms including autism, seizures, and intellectual disability.1 Classical TS is caused by a recurrent de novo CaV1.2 missense mutation, G406R (G1216A transition in the alternatively spliced exon 8a of CACNA1C).1 Despite syndactyly...

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