Abstract
Methly-CpG-binding protein 2 (MECP2) mutations cause Rett syndrome in females. Here we report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene. In addition he has facial dysmorphisms previously not described in these patients.
MeSH terms
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Craniofacial Abnormalities / genetics*
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Developmental Disabilities / genetics
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Frameshift Mutation*
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Humans
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Infant
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Male
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Methyl-CpG-Binding Protein 2 / genetics*
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Microcephaly / genetics*
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Muscle Hypotonia / genetics
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Polysomnography
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Rett Syndrome / genetics*
Substances
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MECP2 protein, human
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Methyl-CpG-Binding Protein 2