A thorough MECP2 mutation analysis
نویسندگان
چکیده
منابع مشابه
A thorough MECP2 mutation analysis
To the Editor: With great interest we have read the short report of Takahashi et al. entitled, Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome’. The report describes a novel missense MECP2 mutation (P.A447T) detected in a girl with Rett syndrome and her asymptomatic carrier mother. Results from X-chromoso...
متن کاملMECP2 mutation analysis in patients with mental retardation.
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 variants, autism, atypical Angelman syndrome, and nonspecific MR. It was earlier proposed that MECP2 mutations might...
متن کاملMeCP2 gene mutation analysis in autistic boys with developmental regression.
Autism and Rett syndrome are both pervasive developmental disorders and share many characteristics in common. One of these features is developmental regression with loss of social, cognitive and language skills after a period of apparently normal development during the first 1-2 years of life, which raises the question of whether there is a common pathway underlying regression in these two diso...
متن کاملRett syndrome: a surprising result of mutation in MECP2.
The identification of mutations in the gene encoding methyl CpG binding protein 2 (MeCP2) in Rett syndrome represents a major advance in the field. The current model predicts that MeCP2 represses transcription by binding methylated CpG residues and mediating chromatin remodeling. A physical interaction between MeCP2, histone deacetylases and the transcriptional co-repressor Sin3A has been demon...
متن کاملDNA Sequence Fragment Containing C to A Mutation as a Convenient Mutation Standard for DHPLC Analysis
Objective(s): Denaturing high performance liquid chromatography (DHPLC) is a high throughput approach for screening DNA sequence variations. To assess oven calibration, cartridge performance, buffer composition and stability, the WAVE Low and High Range Mutation Standards are employed to ensure reproducibility and accuracy of the chromatographic analysis. The purpose of this study was to provi...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Clinical Genetics
سال: 2008
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2008.01082.x