Gene/phenotype/disorder under study
* 176915, PROTEIN PHOSPHATASE 2, CATALYTIC SUBUNIT, ALPHA ISOFORM; PPP2CA
#618354, HOUGE-JANSSENS SYNDROME 3; HJS3
Abstract
Pathogenic variants resulting in protein phosphatase 2A (PP2A) dysfunction result in mild to severe neurodevelopmental delay. PP2A is a trimer of a catalytic (C) subunit, scaffolding (A) subunit, and substrate binding/regulatory (B) subunit, encoded by 19 different genes. De novo missense and loss-of-function variants in PPP2CA (Cα) cause Houge-Janssens syndrome-3 (HJS3) that is characterized by global developmental delay, hypotonia, variably impaired intellectual development, poor speech, and dysmorphic facial features.
In collaboration with the research team of Veerle Janssens and Iris Verbinnen (Leuven, Belgium), who will perform biochemical and organoid experiments, we call for more cases.
Supported by grants from the Norwegian Reference Centre on Rare Diagnoses and the Norwegian Research Council.
Coordinating clinicians
Sofia Douzgou Houge – sofia.douzgou.houge@helse-bergen.no
Gunnar Douzgos Houge
Institution
Haukeland University Hospital, Department of Medical Genetics and the Western Norway Precision Medicine Centre, Bergen, Norway
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes