| MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings. | |
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MedLine Citation:
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PMID: 11930274 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe the clinical and neuropathological presentation of a male with an MECP2 mutation whose sister has Rett syndrome (RS). He presented with severe neonatal encephalopathy and died at the age of 13 months. Mutation analysis of the MECP2 gene demonstrated a 488 - 489 del mutation in his and his sister's copies of the gene. Post mortem examination revealed bilateral polymicrogyria in the perisylvian region. This malformation was visibly more severe than previously described in females with RS and another male with an MECP2 mutation. As bilateral polymicrogyria was described in congenital perisylvian syndrome, the presented patient could be regarded as having suffered from a severe form of this syndrome. We conclude that MECP2 screening should be considered in males with severe neonatal encephalopathy and in males and females with a bilateral polymicrogyria syndrome. |
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Authors:
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N Geerdink; J J Rotteveel; M Lammens; E A Sistermans; G T Heikens; F J M Gabreëls; R A Mullaart; B C J Hamel |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Neuropediatrics Volume: 33 ISSN: 0174-304X ISO Abbreviation: Neuropediatrics Publication Date: 2002 Feb |
Date Detail:
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Created Date: 2002-04-03 Completed Date: 2002-06-12 Revised Date: 2008-01-16 |
Medline Journal Info:
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Nlm Unique ID: 8101187 Medline TA: Neuropediatrics Country: Germany |
Other Details:
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Languages: eng Pagination: 33-6 Citation Subset: IM |
Affiliation:
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Department of Pediatric Neurology, University Medical Center St. Radboud, Nijmegen, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Brain Diseases
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congenital*,
genetics*,
pathology Chromosomal Proteins, Non-Histone* DNA-Binding Proteins / genetics* Humans Infant Male Methyl-CpG-Binding Protein 2 Mutation / genetics* Repressor Proteins* Rett Syndrome / genetics*, pathology Severity of Illness Index |
| Chemical | |
Reg. No./Substance:
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0/Chromosomal Proteins, Non-Histone; 0/DNA-Binding Proteins; 0/MECP2 protein, human; 0/Methyl-CpG-Binding Protein 2; 0/Repressor Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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