Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6)
Population
Affected member of a single family with short QT syndrome and HEK-293 cells for in vitro functional analysis.
Comparison
Identification and functional analysis of the… vs Wild-type variant of the CACNA2D1 gene.
Design
Preclinical
Authors
Discussion
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Member takes
Implication
Supports CACNA2D1 loss-of-function in SQTS; leaves open human validation before screening or therapy implications.
Structured PICO
P
Population
Affected member of a single family with short QT syndrome (QT interval 317 ms, QTc 329 ms) and HEK-293 cells for in vitro functional analysis.
I
Intervention
Identification and functional analysis of the p.Ser755Thr variant in the CACNA2D1 gene (coding for the Ca(v)α(2)δ-1 subunit of the L-type calcium channel).
C
Comparator
Wild-type (WT) variant of the CACNA2D1 gene (in vitro).
O
Outcome
Barium currents (I(Ba)) and protein expression levels in HEK-293 cells.surrogate
The study identifies the first pathogenic mutation in the CACNA2D1 gene (p.Ser755Thr) in humans, establishing a new variant of short QT syndrome (SQTS6) caused by a loss-of-function in the L-type calcium channel.
Cite This Study
Templin et al. (2011) studied this question.