KEGG   DISEASE: Kury-Isidor syndrome
Entry
H02623                      Disease                                
Name
Kury-Isidor syndrome
Description
Kury-Isidor syndrome (KURIS) is a syndromic neurodevelopmental disorder caused by rare germline missense BAP1 variants. Nuclear deubiquitinase BAP1 is a core component of multiprotein complexes that promote transcription by reversing the ubiquitination of histone 2A (H2A).
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
   H02623  Kury-Isidor syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06523  Epigenetic regulation by Polycomb complexes
   H02623  Kury-Isidor syndrome
Network
nt06523 Epigenetic regulation by Polycomb complexes
Gene
BAP1 [HSA:8314] [KO:K08588]
Other DBs
ICD-11: LD90.Y
OMIM: 619762
Reference
PMID:35051358
  Authors
Kury S, Ebstein F, Molle A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogne B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denomme-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnalkova E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA, Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Kruger E, Margueron R, Bezieau S, Poschmann J, Isidor B
  Title
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder.
  Journal
Am J Hum Genet 109:361-372 (2022)
DOI:10.1016/j.ajhg.2021.12.011
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