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

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.

SUBMITTER: Imessaoudene B

PROVIDER: S-EPMC1734835 | biostudies-other | 2001 Mar

REPOSITORIES: biostudies-other

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

Imessaoudene B B Bonnefont J P JP Royer G G Cormier-Daire V V Lyonnet S S Lyon G G Munnich A A Amiel J J

Journal of medical genetics 20010301 3

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-fat ...[more]

PMID: 11238684

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