Dataset Information
SC_DDD-G-3
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00010001602 | EGA |
REPOSITORIES: EGA
Publications
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
The Journal of clinical investigation 20150713 8
Here we report inherited dysregulation of protein phosphatase activity as a cause of intellectual disability (ID). De novo missense mutations in 2 subunits of serine/threonine (Ser/Thr) protein phosphatase 2A (PP2A) were identified in 16 individuals with mild to severe ID, long-lasting hypotonia, epileptic susceptibility, frontal bossing, mild hypertelorism, and downslanting palpebral fissures. PP2A comprises catalytic (C), scaffolding (A), and regulatory (B) subunits that determine subcellular ...[more]
