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Article

Increased CaV1.2 late current by a CACNA1C p.R412M variant causes an atypical Timothy syndrome without syndactyly.

Scientific reports - 8 Nov 2022

Ozawa Junichi, Ohno Seiko, Melgari Dario, Wang Qi, Fukuyama Megumi, Toyoda Futoshi, Makiyama Takeru, Yoshinaga Masao, Suzuki Hiroshi, Saitoh Akihiko, Ai Tomohiko, Horie Minoru

Abstract excerpt

Timothy syndrome (TS) is a rare pleiotropic disorder associated with long QT syndrome, syndactyly, dysmorphic features, and neurological symptoms. Several variants in exon 8 or 8a of CACNA1C, a gene encoding the α-subunit of voltage-gated Ca2+ channels (Cav1.2), are known to cause classical TS. We identified a p.R412M (exon 9) variant in an atypical TS case. The aim of this study was to examine the functional...

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Identifiers

PMID: 36347939
DOI: 10.1038/s41598-022-23512-2
PMCID: PMC9643354

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