Abstract
Mutations in MECP2 are a cause of Rett syndrome. Recently, a new isoform of MeCP2 was described, which has an alternative N-terminus, transcribed from exon 1. We screened exon 1 and the promoter region of MECP2 in 97 mutation-negative Rett syndrome cases. We found two sequence variants, but there was no evidence that they are pathogenic. Mutations in exon 1 and the promoter of MECP2 are not a common cause of Rett syndrome.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Case-Control Studies
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Chromosomal Proteins, Non-Histone / genetics*
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DNA Mutational Analysis
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DNA-Binding Proteins / genetics*
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Exons / genetics*
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Female
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Genotype
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Humans
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Male
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Methyl-CpG-Binding Protein 2
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Mutation / genetics*
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Promoter Regions, Genetic / genetics*
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Repressor Proteins / genetics*
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Rett Syndrome / genetics*
Substances
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Chromosomal Proteins, Non-Histone
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DNA-Binding Proteins
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MECP2 protein, human
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Methyl-CpG-Binding Protein 2
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Repressor Proteins