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.
Tags: Andersen syndrome is characterised by long QT, gene which is affected in Andersen Syndrome (LQT7), KCNH2, KCNJ2, KCNJ2 which codes for Ik1 potassium channel (Kir2.1), KCNJ2 which codes for Ik1 potassium channel (Kir2.1) is affected by a loss of function mutation, KCNQ1, periodic paralysis and facial dysmorphic features, results in a reduced outward potassium current, SCN5A
