Mutations in the methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome, a severe neurodevelopmental disorder occurring predominantly in females. Male patients with Rett syndrome are extremely rare, as the Rett-causing mutations in the MECP2 gene are usually lethal in hemizygous males. However, different mutations in the same gene were reported to cause mental retardation, both in sporadic non-syndromic males as well as in syndromic families with disease manifestation in carrier females. The majority of the reported MECP2 mutations in mentally retarded patients cause amino acid substitutions and, especially in isolated cases, discrimination between a disease-causing mutation and a rare polymorphism is not obvious and the significance of each individual variation should be verified. We mapped a new non-syndromic X-linked family (MRX79) to the chromosomal region Xq27.3-Xq28 and identified an A140V mutation in the MEPC2 gene in all patients with the disease haplotype. In addition to data published by others, this suggests that A140V is a recurrent mutation (and not a polymorphism) found in patients with X-linked mental retardation.
Pubmed ID: 12325019 RIS Download
Mesh terms: Alanine | Amino Acid Substitution | Child, Preschool | Chromosomal Proteins, Non-Histone | Chromosomes, Human, X | CpG Islands | DNA-Binding Proteins | Female | Genetic Testing | Haplotypes | Heterozygote Detection | Humans | Infant | Intellectual Disability | Male | Methyl-CpG-Binding Protein 2 | Mutation | Pedigree | Repressor Proteins | Rett Syndrome | Valine
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