Abstract
Heterozygous mutations in the X-linked MECP2 gene cause Rett syndrome, a severe neurodevelopmental disorder of young females. Only one male presenting an MECP2 mutation has been reported; he survived only to age 1 year, suggesting that mutations in MECP2 are male lethal. Here we report a three-generation family in which two affected males showed severe mental retardation and progressive spasticity, previously mapped in Xq27.2-qter. Two obligate carrier females showed either normal or borderline intelligence, simulating an X-linked recessive trait. The two males and the two obligate carrier females presented a mutation in the MECP2 gene, demonstrating that, in males, MECP2 can be responsible for severe mental retardation associated with neurological disorders.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Child
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Child, Preschool
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Chromosomal Proteins, Non-Histone*
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DNA-Binding Proteins / genetics*
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Disease Progression
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Dosage Compensation, Genetic
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Female
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Fetal Death / genetics
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Genes, Lethal / genetics
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Genes, Recessive / genetics
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Genetic Linkage / genetics*
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Heterozygote
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Humans
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Infant
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Infant, Newborn
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Intellectual Disability / complications
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Intellectual Disability / genetics*
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Intellectual Disability / physiopathology
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Male
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Methyl-CpG-Binding Protein 2
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Muscle Spasticity / complications
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Muscle Spasticity / genetics*
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Muscle Spasticity / physiopathology
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Mutation / genetics*
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Pedigree
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RNA, Messenger / analysis
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RNA, Messenger / genetics
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Repressor Proteins*
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Rett Syndrome / complications
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Rett Syndrome / genetics*
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Rett Syndrome / physiopathology
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Reverse Transcriptase Polymerase Chain Reaction
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X Chromosome / 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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RNA, Messenger
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Repressor Proteins