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
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.
