MECP2 mutation in non-fatal, non-progressive encephalopathy in a male
Open Access
- 1 March 2001
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 38 (3), 171-174
- https://doi.org/10.1136/jmg.38.3.171
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 UBE3Alocus. 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 thatMECP2 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
This publication has 11 references indexed in Scilit:
- A Mutation in the Rett Syndrome Gene, MECP2, Causes X-Linked Mental Retardation and Progressive Spasticity in MalesAmerican Journal of Human Genetics, 2000
- MECP2 mutation in male patients with non‐specific X‐linked mental retardationFEBS Letters, 2000
- Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in malesThe Lancet, 2000
- Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG HotspotsAmerican Journal of Human Genetics, 1999
- Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2Nature Genetics, 1999
- Angelman syndrome: a review of clinical and genetic aspectsClinical Neurology and Neurosurgery, 1999
- Rett Syndrome in a Boy with a 47,XXY KaryotypeAmerican Journal of Human Genetics, 1999
- The Methyl-CpG Binding Transcriptional Repressor MeCP2 Stably Associates with Nucleosomal DNABiochemistry, 1999
- Transcriptional repression by the methyl-CpG-binding protein MeCP2 involves a histone deacetylase complexNature, 1998
- Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq.Journal of Medical Genetics, 1998