Rett syndrome

Definition:

Rett Syndrome is a severe neurological disorder found almost exclusively in girls. It is characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical hand movements. Mutations in MECP2 are identified in most patients with classic Rett syndrome. Recently, mutations in FOXG1 gene have been shown to cause congenital variant of Rett syndrome.

References:

[1]. Francois Dominique Jacob, et al. Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature. Eur J Hum Genet. 2009 Dec;17(12):1577-81. [Content Brief]

[2]. R E Amir, et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999 Oct;23(2):185-8. [Content Brief]

[3]. Skirmantas Kriaucionis, et al. DNA methylation and Rett syndrome. Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R221-7. [Content Brief]

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