March 29, 2006Journal of Medical GeneticsOpen Access

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome

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Population

A family with inherited Andersen-Tawil syndrome, Xenopus oocytes, and transgenic mice.

Comparison

Expression of the T75R missense mutation of Kir2.1 vs Wild type Kir2.1 expression or non-transgenic…

Design

Preclinical

Authors

CLChun‐Wei LuNational Taiwan University Hospital YRYadavendra S. RajawatBaylor College of Medicine HJHenry H. JerngBaylor College of Medicine

Discussion

Member takes

Implication

T75R mouse data should not yet inform clinical decisions in Andersen-Tawil syndrome; leaves open human mechanistic validation.

Structured PICO

Population

A family with inherited Andersen-Tawil syndrome (3 affected members identified), Xenopus oocytes, and transgenic mice (14 T75R-Tg, 7 Wt-Tg, 6 non-transgenic littermates).

Intervention

Expression of the T75R missense mutation of Kir2.1 (in vitro and in vivo)

Comparator

Wild type Kir2.1 expression or non-transgenic controls

Outcome

Functional characteristics of the mutated gene (channel function in vitro, QTc intervals and ventricular tachyarrhythmias in vivo)surrogate

The T75R mutation in KCNJ2 causes Andersen-Tawil syndrome by exerting a dominant negative effect on Kir2.1 channels, leading to prolonged QT intervals and bidirectional ventricular tachycardia.

Cite This Study

Lu et al. (2006) studied this question.

synapsesocial.com/papers/6a91b137ba3535a4ddf59558 https://doi.org/10.1136/jmg.2006.040816

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Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Also Consider