Mutations in the MECP2 gene are known to cause Rett syndrome (RTT)—a neurodevelopmental disorder, one of the most common causes of intellectual disability in females, with an incidence of 1 in 10000–15000. We have investigated exons 3 and 4 of the MECP2 gene, that coding MBD and TRD...
MECP2 gene mutation analysis in Iranian patients with rett syndromeMajid, F HMehrdad, N
Rett syndrome (RTT) was first described in 1966. Its biological and genetic foundations were not clear until recently when Amir et al reported that mutations in the MECP2 gene were detected in around 50% of RTT patients. In this study, we have screened the MECP2 gene for mutations in ...
Gene therapy is a potentially curative medicine for many currently untreatable diseases, and recombinant adeno-associated virus (rAAV) is the most successful gene delivery vehicle for in vivo applications1,2,3. However, rAAV-based gene therapy suffers from several limitations, such as constrained DN...
Magnetic resonance imaging (MRI) revealed extensive white matter lesions, with anti-MOG antibodies detected in the serum and cerebrospinal fluid, resulting in an initial diagnosis of anti-MOG antibody encephalitis. However, additional testing of the MECP2 gene was performed in response to persistent ...
MECP2; MECP2_e1; MECP2-related severe neonatal encephalopathy; severe neonatal encephalopathy; Rett Syndrome Specific mutations in MECP2 cause Rett syndrome (RTT) in females whereas other mutations in the same gene cause several other syndromes in males, including X-linked intellectual disability ...
Methly-CpG-binding protein 2 ( MECP2) mutations cause Rett syndrome in females. Here we report on a male infant with neonatal encephalopathy, myoclonic jerks, and irregular breathing patterns caused by a novel frameshift mutation in the MECP2 gene. In addition he has facial dysmorphisms ...
J Hum Genet (2007) 52:38–47 DOI 10.1007/s10038-006-0079-0 ORIGINAL ARTICLE MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome Mei-rong Li Æ Hong Pan Æ Xin-Hua Bao Æ Yu-Zhi Zhang Æ Xi-Ru Wu Received: 12 July 2006 / Accepted: 26 September ...
It can even result in chromosomes or entire genomes being copied. What disease is caused by duplication mutation? An example of gene duplication is MECP2 duplication syndrome. This occurs when the gene coding for the protein MeCP2 is duplicated, resulting in additional expression of MeCP2....
De novo mutations in MeCP2 gene cause Rett syndrome (Amir et al., 1999) and mosaic mutations have been reported in males with both classic and atypical forms of Rett syndrome (Pieras et al., 2011; Topcu et al., 2002). Our ability to detect a pathogenic somatic mutation using current...