Andersen Syndrome
Posted by: Johnson Francis on: 20 Sep, 2009
The gene which is affected in Andersen Syndrome (LQT7) is:
a. KCNH2
b. KCNQ1
c. SCN5A
d. KCNJ2
Answer: d
In Andersen syndrome, KCNJ2 which codes for Ik1 potassium channel (Kir2.1) is affected by a loss of function mutation. This results in a reduced outward potassium current. Andersen syndrome is characterised by long QT, periodic paralysis and facial dysmorphic features.
Ref. Braunwald’s Heart Disease, 8th Edition, page 102.
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