Rett syndrome is a X-linked dominant, progressive neurological disorder that primarily affects females, due to the lethality of severe mutations in males. It is characterized by normal development early on in life, followed by an arrest in development, and subsequently, a regression in language and motor skills. Most individuals typically develop loss of purposeful hand movements, and instead develop stereotypical repetitive hand motions. Approximately 50% of these individuals will also develop seizures. Severe mutations in the MECP2 gene have been associated with “classic” Rett syndrome. Mutations in MECP2 have also been observed in patients with “atypical” Rett syndrome. Considered to be a milder form of this disease due to “mild” mutations in the MECP2 gene. Clinical features include mental retardation, mild learning disabilities and/or autism. The syndrome shows X-linked dominant inheritance and complete penetrance but is notable for some variability in the severety of clinical manifestations. Defects in the gene that encodes Methyl-CpG-Binding Protein 2 (MECP2), impairs normal control measures for gene transcription. The MECP2 protein functions by binding, and thereby silencing, genes that are controlled via methylation of CpG islands
In addition, there is evidence that other milder mutations in MECP2 gene predispose to autism and Xlinked mental retardation, although more work is necessary to confirm the findings and to estimate the frequency at which MECP2 contributes to this disorders.
To open a printable assay summary in a new window, click the link below.