Screening ofARXin mental retardation families: consequences for the strategy of molecular diagnosis
β Scribed by K. Poirier; D. Lacombe; B. Gilbert-Dussardier; M. Raynaud; V. Desportes; A. P. M. de Brouwer; C. Moraine; J. P. Fryns; H. H. Ropers; C. Beldjord; J. Chelly; T. Bienvenu
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 168 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1364-6745
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Rett syndrome (RTT) is a severe progressive neurological disorder that affects almost exclusively females. The gene responsible for this disorder, MECP2, was recently identified by candidate gene strategy. Mutations were detected in 70-85% of RTT cases. We report here five novel frameshift mutations
Mutations in the methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome, a severe neurodevelopmental disorder occurring predominantly in females. Male patients with Rett syndrome are extremely rare, as the Rett-causing mutations in the MECP2 gene are usually lethal in hemizygous males. However, di