RERE-related neurodevelopmental syndrome

Definition:

RERE-related neurodevelopmental syndrome, also known as neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH), is a rare autosomal dominant disorder. Patients with intellectual disability, developmental delay, and autism spectrum disorder who carry mutations in RERE have been described. RERE is a widely-expressed nuclear receptor coregulator that positively regulates retinoic acid signaling.

References:

[1]. Brieana Fregeau, et al. De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions. Am J Hum Genet. 2016 May 5;98(5):963-970. [Content Brief]

[2]. Bum Jun Kim, et al. An allelic series of mice reveals a role for RERE in the development of multiple organs affected in chromosome 1p36 deletions. PLoS One. 2013;8(2):e57460. [Content Brief]

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