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. 2001 Mar;38(3):171–174. doi: 10.1136/jmg.38.3.171

MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

B Imessaoudene 1, J Bonnefont 1, G Royer 1, V Cormier-Daire 1, S Lyonnet 1, G Lyon 1, A Munnich 1, J Amiel 1
PMCID: PMC1734835  PMID: 11238684

Abstract

To study the clinical overlap between Rett (RTT) and Angelman syndromes (AS), we screened the MECP2 gene in a cohort of 78 patients diagnosed as possible AS but who showed a normal methylation pattern at the UBE3A locus. MECP2 missense (R106W, G428S), nonsense (R255X, R270X), and frameshift mutations (803 delG) were identified in 6/78 patients including 4/6 female cases consistent with RTT, one female case with progressive encephalopathy of neonatal onset, and one isolated male case with non-fatal, non-progressive encephalopathy of neonatal onset. This study shows that MECP2 mutations can account for a broad spectrum of clinical presentations and raises the difficult issue of the screening of the MECP2 gene in severe encephalopathy in both males and females.


Keywords: MECP2 gene; Rett syndrome; Angelman syndrome; encephalopathy

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Selected References

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