Brunet-Wagner neurodevelopmental syndrome

Definition:

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.

References:

[1]. Nadra Samra, et al. RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function. J Hum Genet. 2021 Nov;66(11):1101-1112. [Content Brief]

[2]. Theresa Brunet, et al. Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder. Ann Clin Transl Neurol. 2020 Mar;7(3):390-396. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.