KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability

The human cell functions are highly dependent on the regulated movement of ions across the cell membrane, which is carried out by proteins called ion channels. One subset of ion channels regulates the movement of potassium, especially in excitable tissues like that of the brain. In this report, we describe a genetic change in the DNA code of a potassium channel (known as KCNA4) that led to a novel disease affecting the brain and likely to involve in natural eye lens. All four affected patients had this change, which was absent in their non-affected family members as well as healthy control samples. Examination of clawed frog eggs that over-expressed the same genetic change revealed that potassium movement across the cell membrane was reduced compared to eggs with the normal genetic makeup. Such findings implicate the involvement of this genetic change in the disease process. (By Dr. Namik Kaya, http://jmg.bmj.com/content/early/2016/08/31/jmedgenet-2015-103637 )