Key result
The Arg555Cys missense mutation in the C-terminal domain of KVLQT1 was associated with significantly fewer symptomatic carriers (16% vs 58%, P<.001) and sudden deaths (5% vs 24%, P<.01) compared to transmembrane mutations.
Why the study?
Does the Arg555Cys missense mutation in the C-terminal domain of KVLQT1 result in a different clinical phenotype compared to transmembrane mutations in Romano-Ward syndrome?
Population
20 Romano-Ward syndrome (RWS) families originating from France, comprising 139 carriers of KVLQT1 mutations.
Comparison
Arg555Cys missense mutation in the C-terminal… vs Missense mutations in the transmembrane domains…
Design
Cohort
Authors
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May warrant QT-drug caution in milder C-terminal LQTS; extends genotype-phenotype data but remains hypothesis-generating.
Observational (n=139)
Does the Arg555Cys missense mutation in the C-terminal domain of KVLQT1 result in a different clinical phenotype compared to transmembrane mutations in Romano-Ward syndrome?
Absolute Event Rate: 16% vs 58%
p-value: p=<.001
The Arg555Cys missense mutation in the C-terminal domain of KVLQT1 is associated with a milder 'forme fruste' phenotype of Long-QT syndrome, which may predispose to drug-induced acquired LQT syndrome.
Donger et al. (1997) conducted an observational in Romano-Ward syndrome (RWS) (n=139). Arg555Cys missense mutation in the C-terminal domain vs. Mutations in the transmembrane domains was evaluated on Symptomatic carriers (p=<.001). The Arg555Cys missense mutation in the C-terminal domain of KVLQT1 was associated with significantly fewer symptomatic carriers (16% vs 58%, P<.001) and sudden deaths (5% vs 24%, P<.01) compared to transmembrane mutations.
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