Abstract
We describe the clinical and molecular findings of a 6-year-old boy carrying a novel missense 964C>T mutation on the MECP2 gene. The patient shows moderate mental retardation with autistic features and epilepsy. His mother is heterozygous for the same mutation.
MeSH terms
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Brain / pathology
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Brain / physiopathology
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Child
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Chromosomes, Human, X
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DNA Mutational Analysis / methods
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Electroencephalography / methods
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Electromyography
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Family Health
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Female
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Humans
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Intellectual Disability / genetics*
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Intellectual Disability / physiopathology
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Karyotyping / methods
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Magnetic Resonance Imaging / methods
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Male
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Methyl-CpG-Binding Protein 2 / genetics*
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Mutation*
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Neuropsychological Tests
Substances
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MECP2 protein, human
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Methyl-CpG-Binding Protein 2