MECP2 mutations in males. J Med Genet. 2007;44(7):417- 423.Villard L. MECP2 mutations in males. J Med Genet 2007;44:417-23.Villard L (2007): MECP2 mutations in males. J. Med. Genet. 44, 417-423Villard L (2007) MECP2 mutations in males. J Med Genet 44:417- 423....
However, MECP2 mutations are now frequently identified in mentally retarded male patients. The frequency of disease-causing MECP2 mutations in this population is between 1.3% and 1.7%. Surprisingly, MECP2 mutations in males are responsible for a wide spectrum of neurological disorders, ranging ...
Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure Clin Genet (2008) RettBASE: RettSyndrome.org Variation Databasse. http://mecp2.chw.edu.au [accessed... A.M. Kerr et al. Rett syndrome: analysis of deaths in th...
Conclusions: These results confirm that MECP2 mutations in males are far more rare than initially thought and call for a careful evaluation of the pathogenicity of the MECP2 missense mutations identified in mentally retarded males before genetic counseling is proposed to the relatives.Violaine...
1999年,Amir等[4]在Rett综合征病人中发现了甲基化CpG结合蛋白-2(methyl-CpG-binding protein 2, MECP2)基因功能缺失型突变,定位于Xq28。不到6年,科学家发现MECP2过表达(duplication /triplication)同样可以导致男孩严重的孤独症样表现、智力障碍、反复感染和过早夭折,称为MECP2重复综合征(MECP2 duplication ...
Mutations in the methyl-CpG-binding protein 2 ( MECP2 ) gene are known to underlie Rett' syndrome, the most common cause of mental retardation (MR) in girls. Since the original report, phenotypes resulting from MECP2 mutations have been shown to extend, for example, to several Rett ...
Most females with Rett syndrome have known MECP2 (methyl CpG binding protein 2) mutations. HEALTH SCIENCE PAPER ABSTRACTS (19) showed the overexpression of miR-155 in the fibroblasts of discordant monozygotic twins and also confirmed that miR-155 was associated with cognitive impairment in individua...
RTT is primarily caused by de novo mutations in the methyl-CpG-binding protein 2 gene (MECP2). We established a high-resolution melting (HRM) technique for mutation scanning of the MECP2 gene and performed analyses in Czech patients with RTT, autism spectrum conditions and intellectual ...
Of these five conditions, only RTT has a known genetic cause, with mutations in Methyl-CpG-binding protein 2 (MeCP2), a global repressor of gene expression, responsible for the majority of RTT cases. However, recent evidence indicates that reduced MeCP2 expression or activity is also found ...
MECP2 mutations in males. J. Med. Genet. 44, 417–423 (2007). 14. Shahbazian, M. et al. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35, 243–254 (2002). 15. Moretti, P., Bouwknecht, J. A., Teague, R....