Houge-Janssens syndrome (HJS) is PP2A-related neurodevelopmental disorder. PP2A enzymes play essential regulatory roles in cellular signalling and physiology, including in brain function and development. It has been known for decades that PP2A dysregulation results in neurodegenerative disorders in the aging brain. Recently, It has been reported that mutations in several PP2A subunits cause rare neurodevelopmental disorders, such as NEDLBA and autosomal dominant intellectual developmental disorders (MRD).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02632 Houge-Janssens syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06530 PI3K signaling
H02632 Houge-Janssens syndrome
Cellular process
nt06512 Chromosome cohesion and segregation
H02632 Houge-Janssens syndrome
Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM
Title
De Novo Mutations Affecting the Catalytic C alpha Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Doskeland SO, Hurles ME, FitzPatrick DR, Janssens V
Title
B56delta-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
