Article
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.
Orphanet journal of rare diseases - 30 Aug 2011
Ravn Kirstine, Roende Gitte, Duno Morten, Fuglsang Kathrine, Eiklid Kristin L, Tümer Zeynep, Nielsen Jytte B, Skjeldal Ola H
Abstract excerpt
BACKGROUND: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder, which is usually caused by de novo mutations in the MECP2 gene. More than 70% of the disease causing MECP2 mutations are eight recurrent C to T transitions, which almost exclusively arise on the paternally derived X chromosome. About 10% of the RTT cases have a C-terminal frameshift deletion in MECP2. Only few RTT families with a...
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