Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband
β Scribed by Hardwick, Simon A; Reuter, Kirsten; Williamson, Sarah L; Vasudevan, Vidya; Donald, Jennifer; Slater, Katrina; Bennetts, Bruce; Bebbington, Ami; Leonard, Helen; Williams, Simon R
- Book ID
- 110027211
- Publisher
- Nature Publishing Group
- Year
- 2007
- Tongue
- English
- Weight
- 246 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1018-4813
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## Communicated by Garry Cutting Mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2) are found in 70-80% of cases of classical Rett syndrome (RTT) and in about 50% of cases of preserved speech variant (PSV). This high percentage of MECP2 mutations, especially in classical RTT cases
A four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile X syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile X gene (FMR1). The breakpoints of the deletion were established between CDR1 and sWXD2905 (approximately 200
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