Draft:Houge-Janssens Syndrome
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Last edited by Citation bot (talk | contribs) 13 days ago. (Update) |
Houge-Janssens Syndrome is a rare neurodevelopmental disorder in people. It is characterized by a combination of symptoms including intellectual delay, epilepsy, hypotonia, brain abnormality, behavioral problems, and digestive dysfunction. Many of those diagnosed also qualify for diagnosis with autism spectrum disorder.
Genetics[edit]
There are three recognized subtypes of Houge-Janssens Syndrome. Houge-Janssens Syndrome Type 1, a.k.a. Jordan's Syndrome, is caused by a pathogenic variant of the gene PPP2R5D. Types 2 and 3 are caused by pathogenic variants of the genes PPP2R1A and PPP2CA respectively. Each of those genes encodes a subunit of the PP2A holoenzyme. A number of pathogenic variants have been identified for each gene leading to the presentation of the disease occurring on a spectrum.
Signs and symptoms[edit]
Neurological symptoms include intellectual and developmental delay ranging from mild to profound in degree.[1]
References[edit]
- ^ Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A.; Bongers, Ernie M.H.F.; Schieving, Jolanda H.; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlène; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M.P.C.D. (January 2019). "De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders". The American Journal of Human Genetics. 104 (1): 139–156. doi:10.1016/j.ajhg.2018.12.002. ISSN 0002-9297. PMC 6323609. PMID 30595372.