KEGG   DISEASE: Brunet-Wagner neurodevelopmental syndrome
Entry
H02613                      Disease                                
Name
Brunet-Wagner neurodevelopmental syndrome
Description
Brunet-Wagner neurodevelopmental syndrome (BRUWAG) is a severe autosomal recessive disorder with infantile hypotonia, severe developmental delay, and microcephaly. It has been reported that bi-allelic RBL2-truncating variants cause this syndrome. RBL2 is the main RB family member that binds E2F4 and functions as a key regulator of cell division. RBL2 is also involved in neuronal differentiation and neural survival.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H02613  Brunet-Wagner neurodevelopmental syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02613  Brunet-Wagner neurodevelopmental syndrome
Related
pathway
hsa04110 Cell cycle   
hsa04218 Cellular senescence   
Gene
RBL2 [HSA:5934] [KO:K16332]
Other DBs
ICD-11: LD90.Y
ICD-10: Q87.8
OMIM: 619690
Reference
  Authors
Brunet T, Radivojkov-Blagojevic M, Lichtner P, Kraus V, Meitinger T, Wagner M
  Title
Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.
  Journal
Ann Clin Transl Neurol 7:390-396 (2020)
DOI:10.1002/acn3.50992
Reference
  Authors
Samra N, Toubiana S, Yttervik H, Tzur-Gilat A, Morani I, Itzkovich C, Giladi L, Abu Jabal K, Cao JZ, Godley LA, Mory A, Baris Feldman H, Tveten K, Selig S, Weiss K
  Title
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.
  Journal
J Hum Genet 66:1101-1112 (2021)
DOI:10.1038/s10038-021-00931-z
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