Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

Keyphrases

• Neurodevelopmental Disorders 100%
• Syndrome Type 100%
• Protein Phosphatase 2A (PP2A) 100%
• PPP2R5C 100%
• Gain-of-function mutation 66%
• Developmental Delay 66%
• Substrate Binding 66%
• Missense 66%
• C Subunit 66%
• High Risk 33%
• Clinical Features 33%
• Behavior Problems 33%
• Intellectual Disability 33%
• Dephosphorylation 33%
• Pathogenic Variants 33%
• Trimer 33%
• Dominant Negative 33%
• Epilepsy 33%
• Missense Variants 33%
• Phosphatase 33%
• Hypotonia 33%
• Pathogenic Mechanism 33%
• Phenotypic Characteristics 33%
• Catalytic Activity 33%
• Head Circumference 33%
• PPP2R1A 33%
• Total Loss 33%
• Dysmorphic Facial Features 33%
• PPP2R5D 33%
• PPP2CA 33%
• Regulatory B 33%

Biochemistry, Genetics and Molecular Biology

• Missense 100%
• Phosphoprotein Phosphatase 100%
• Dephosphorylation 33%
• Intellectual Disability 33%
• Phosphatase 33%
• Enzymatic Activity 33%