Rett syndrome: clinical characteristics and recent genetic advances.
OBJECTIVE
Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in females. In recent years there has been increased knowledge concerning the multidisciplinary management of individuals with Rett syndrome. The aim of this paper is to provide an update of the clinical phenotype, natural history and current genetic understanding of the disorder.


CONCLUSIONS
Rett syndrome is thought to be the second most common cause of severe mental retardation in females after Down syndrome. it now appears that females with RS present with a much broader phenotype than originally described. Recently, mutations in the MECP2 gene encoding X-linked methyl-CpG-binding-protein 2 have been identified in some females with Rett syndrome.
Western Sydney Genetics Program, The Royal Alexandra Hospital for Children, Parramatta, NSW, Australia.
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Ellaway
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Christodoulou
D017668:Age of Onset; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics; D003937:Diagnosis, Differential; D018450:Disease Progression; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2; D008967:Molecular Biology; D009154:Mutation / Q000235:genetics; D009448:Neurochemistry; D010348:Patient Care Team; D010641:Phenotype; D012097:Repressor Proteins; D015518:Rett Syndrome / Q000145:classification / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D017678:Sex Distribution; D014960:X Chromosome / Q000235:genetics
D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins