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Article

Houge-Janssens syndrome.

European journal of human genetics : EJHG - 1 Oct 2025

Houge Gunnar Douzgos, Houge Sofia Douzgou, Hsieh Tzung-Chien, Verbinnen Iris, Janssens Veerle

Abstract excerpt

Houge-Janssens syndrome (HJS) is caused by protein phosphatase type 2A (PP2A) dysfunction. The core features are neurodevelopmental delay, especially concerning language, prolonged hypotonia, high risk of seizures, and behavior problems. PP2A oppose the activity of serine/threonine protein kinases, including growth promoting kinases of the PIK3CA/AKT/mTOR and RAS/MAPK pathways. Decreased PP2A activity can thus be...

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Source

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Identifiers

PMID: 40555839
DOI: 10.1038/s41431-025-01901-1
PMCID: PMC12479836

Genes

PIK3CA
PPP2CA
PPP2R1A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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