[Rett's syndrome. Clinical features and advances in genetics].

Abstract excerpt

INTRODUCTION: Rett's syndrome (RS) is a disorder of neurological development which is the second commonest cause of mental retardation in girls. It is normally caused by de novo mutations of a gene on the X chromosome. This gene encodes for the protein joining the methyl CpG (MECP2). Mutations of this gene have been found in approximately 80% of the cases confirmed as having the classical form of RS. Mutations of...

Topics

• Child
• Chromosomal Proteins, Non-Histone
• Chromosomes, Human, X
• DNA-Binding Proteins
• Female
• Genetic Markers
• Genotype
• Humans
• Methyl-CpG-Binding Protein 2
• Mutation
• Phenotype
• Repressor Proteins