Which genetic mutation is associated with Andersen-Tawil Syndrome?

Andersen-Tawil Syndrome (ATS) is primarily linked to mutations in the KCNJ2 gene. This gene encodes a potassium channel that is critical for maintaining the electrical stability of heart and muscle cells. Mutations in KCNJ2 disrupt the normal functioning of this potassium channel, leading to the characteristic symptoms of ATS, which include a combination of cardiac arrhythmias, periodic paralysis, and distinctive physical features.

The other genes listed are associated with different syndromes or conditions. For example, PSEN2 is primarily linked to familial Alzheimer's disease, SCN5A mutations are often related to long QT syndrome and cardiac conduction disorders, and KCNH2 mutations are associated with another type of long QT syndrome. Their involvement in these distinct conditions further reinforces the specificity of KCNJ2 mutations to Andersen-Tawil Syndrome.