B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability
Original research article by G. Houge et al. (2015)
Read the abstract here.
This article examines how changes in the PPP2R5D gene can cause features of intellectual disability. The study team identified 16 people who have a problem with the creation and processing of the PP2A protein, which is made by the PPP2R5D gene. From this group of 16 identified people, 11 were found to have changes in the PPP2R5D gene and 5 had a change in a related gene, PPP2R1A.
Of the eleven PPP2R5D cases that were identified, it was found that the type or location of the change in the PPP2R5D gene was related to the severity of intellectual disability (ID). Eight of 11 people found to have PPP2R5D genetic changes had either the E198K change or the E200K change (E198K and E200K denote the location and protein changes caused by the change). People with the E198K change experienced more severe intellectual disability. However, people with the E200K change were found to have mild intellectual disability.
The following table represents the common clinical features of people found to have genetic changes in PPP2R5D: