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
In conclusion, this work described an AS-like patient, with an unusual novel double mutation (c.397C > T in trans with c.608C > T) in MECP2 gene co-occurring with the mitochondrial m.827A > G mutation in the MT-RNR1 gene. Thus, it underlines the importance of study...
However, the recent identification of mutations in the MECP2 gene in affected males indicates that screening of the MECP2 gene should be considered also in males with severe mental retardation (MR) in whom the most common forms of MR have been excluded. 展开 关键词: Rett syndrome XXY ...
J Hum Genet (2007) 52:342–348 DOI 10.1007/s10038-007-0121-x ORIGINAL ARTICLE Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms Daniela Zahorakova Æ Robert Rosipal Æ Jan Hadac Æ Alena Zumrova Æ Vladimir Bzduch...
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...
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. Gene Duplication Meaning Gene duplicationrefers to a mutation during which a sequence of genetic information is duplicated...
Mutations in the methyl-CpG-binding protein gene MECP2 at Xq28 cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder characterized by... JP Cheadle,G Harinder,F Nick,... - 《Human Molecular Genetics》 被引量: 531发表: 2000年 Purification and Properties of Wild-type an...
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 ...
Diagnostic testing for Rett syndrome by DHPLC and direct sequencing analysis of the MECP2 gene: identification of several novel mutations and polymorphisms. Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1/10,000鈥 15,000 girls. The disease-causing gene was identi...