Duplication: This is an additional copy of a gene or genes that may alter the function of the organism. In the case of Rett syndrome, we know that the gene dose of MECP2 is tightly regulated in the cell so that too little (resulting from a pathological mutation) or too much (resulting from a duplication or even triplication) is deleterious to the normal function of the protein.

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Duplication: This is an additional copy of a gene or genes that may alter the function of the organism. In the case of Rett syndrome, we know that the gene dose of MECP2 is tightly regulated in the cell so that too little (resulting from a pathological mutation) or too much (resulting from a duplication or even triplication) is deleterious to the normal function of the protein.

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Gene: This is the basic code determining the composition of all living organisms and each gene has a specific code determining the composition of that specific molecule.

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MECP2: This is the shorthand for methyl-CpG-binding protein 2, one of a family of methyl-binding proteins that are principally located in the nucleus of the cells and regulate the activity of other genes.

MeCP2: This is the shorthand for the protein derived from the MECP2 gene.

Mutation: This is a change in the genetic code for a specific gene that alters the composition of the specific protein and is responsible for alteration in function of that protein.

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Protein: This is the product of the genetic code in the gene responsible for each protein; each protein is made up of amino acids that determine the function, organization, and specific location of the protein in the body.

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