Molecular genetics of Rett syndrome.
Rett syndrome is a neurodevelopmental disorder affecting almost exclusively females. It affects approximately one in 15000 females and is characterized by a loss of purposeful hand use, autism, ataxia and seizure. The disorder is usually sporadic, but rare familial cases have also been reported. Recently it has been shown that familial cases are an X-linked dominant disorder and the disease locus maps to Xq28. A candidate gene called methyl-CpG-binding protein 2 was identified from the Xq28 region and was shown to contain mutations in about 77% of Rett syndrome patients. Since the encoded protein was previously shown to be a global transcriptional repressor, undesired expression of yet unidentified genes that are normally repressed is considered to be pathogenic in Rett syndrome.
Shastry
B S
BS
Department of Biological Sciences, Oakland University, Rochester, MI 48309, USA. barkur@aol.com
D002874:Chromosome Mapping; D008040:Genetic Linkage; D006801:Humans; D015518:Rett Syndrome / Q000235:genetics*; D014960:X Chromosome