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Article

Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome.

PloS one - 1 Jan 2022

Nakajima Tadashi, Kawabata-Iwakawa Reika, Tamura Shuntaro, Hasegawa Hiroshi, Kobari Takashi, Itoh Hideki, Horie Minoru, Nishiyama Masahiko, Kurabayashi Masahiko, Kaneko Yoshiaki, Ishii Hideki

Abstract excerpt

BACKGROUND: Gain-of-function mutations in CACNA1C encoding Cav1.2 cause syndromic or non-syndromic type-8 long QT syndrome (LQTS) (sLQT8 or nsLQT8). The cytoplasmic domain (D)Ⅰ-Ⅱ linker in Cav1.2 plays a pivotal role in calcium channel inactivation, and mutations in this site have been associated with sLQT8 (such as Timothy syndrome) but not nsLQT8. OBJECTIVE: Since we identified a novel CACNA1C mutation, located...

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Identifiers

PMID: 35862440
DOI: 10.1371/journal.pone.0271796
PMCID: PMC9302756

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