Alternate gene names: MRD35, B56D
Associated syndromes or conditions: None known
Genomic location: 6p21.1
Diagnoses observed in people with changes in the PPP2R5D gene:
- Autism Spectrum Disorder –
- Intellectual Disability or Developmental Delay –
- Epilepsy or Seizures –
- Attention Deficit Hyperactivity Disorder –
- Schizophrenia –
- Bipolar Disorder –
- PPP2R5D: Simons VIP Connect Support Group (Facebook)
In addition to the opportunity to participate in research with Simons VIP, you may be interested in other opportunities.
Infographic: https://magic.piktochart.com/output/14139147-ppp2r5d-infographic (share this link with others)
Research Article Summaries:
Below, we've summarized several research articles that include information about PPP2R5D. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.
- Houge et al., 2015 - B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability
This article examines how genetic changes (mutations) in the PPP2R5D gene can cause features of intellectual disability. The study team identified 16 individuals 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 patients, 11 were found to have mutations in the PPP2R5D gene and 5 of the 16 individuals had a mutation in a related gene, PPP2R1A.
Of the eleven PPP2R5D cases that were identified, it was found that the type or location of the mutation in the PPP2R5D gene was related to the severity of intellectual disability (ID) in the patient. Eight of 11 patients found to have PPP2R5D genetic changes had either the “E198K” mutation or the “E200K” mutation (E198K and E200K denote the very specific location and protein changes caused by the mutation). Individuals with the E198K mutation experienced more severe intellectual disability. However, individuals with the E200K mutation were found to have mild intellectual disability.
The following table represents the common clinical features of individuals found to have genetic changes in PPP2R5D: