KEGG   DISEASE: Ferguson-Bonni neurodevelopmental syndrome
Entry
H02584                      Disease                                
Name
Ferguson-Bonni neurodevelopmental syndrome
Description
Ferguson-Bonni neurodevelopmental syndrome (FERBON) is an autosomal recessive intellectual disability syndrome caused by mutations in ANAPC7. ANAPC7 encodes APC7, a core component of the E3 ubiquitin ligase anaphase promoting complex. It has been suggested that APC7 is required for the development of the mammalian brain.
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
   H02584  Ferguson-Bonni neurodevelopmental syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06512  Chromosome cohesion and segregation
   H02584  Ferguson-Bonni neurodevelopmental syndrome
Pathway
hsa04110  Cell cycle
hsa04114  Oocyte meiosis
Network
nt06512 Chromosome cohesion and segregation
Gene
ANAPC7 [HSA:51434] [KO:K03354]
Other DBs
ICD-11: LD90.Y
ICD-10: Q87.8
OMIM: 619699
Reference
PMID:34942119
  Authors
Ferguson CJ, Urso O, Bodrug T, Gassaway BM, Watson ER, Prabu JR, Lara-Gonzalez P, Martinez-Chacin RC, Wu DY, Brigatti KW, Puffenberger EG, Taylor CM, Haas-Givler B, Jinks RN, Strauss KA, Desai A, Gabel HW, Gygi SP, Schulman BA, Brown NG, Bonni A
  Title
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain.
  Journal
Mol Cell 82:90-105.e13 (2022)
DOI:10.1016/j.molcel.2021.11.031
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