Clinical Stringency Greatly Improves Mutation Detection in Rett Syndrome
نویسندگان
چکیده
منابع مشابه
Clinical stringency greatly improves mutation detection in Rett syndrome.
BACKGROUND Rett syndrome (RTT) is a severe neurodevelopmental disorder of girls, caused by mutations in the X-linked MECP2 gene. Worldwide recognition of the RTT clinical phenotype in the early 1980's allowed many cases to be diagnosed, and established RTT as one of the most common mental retardation syndromes in females. The years since then led to a refinement of the phenotype and the recent ...
متن کاملMutation screening in Rett syndrome patients.
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 our RTT material, including nine familial cases (19 Rett girls) and 59 sporadic cases. A total of 27 sporadic RT...
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Rett syndrome (RTT) is a severe neurodevelopmental disorder and is the second most common form of severe mental retardation in females. RTT affects 1 in 8,000 births by the age of 15 and does not discriminate between racial or ethnic groups. It is a devastating condition characterised by progressive loss of speech and movement and the development of intellectual disability at a very young age. ...
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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 کاملRett syndrome: clinical review and genetic update.
Rett syndrome (RS) is a severe neurodevelopmental disorder that contributes significantly to severe intellectual disability in females worldwide. It is caused by mutations in MECP2 in the majority of cases, but a proportion of atypical cases may result from mutations in CDKL5, particularly the early onset seizure variant. The relationship between MECP2 and CDKL5, and whether they cause RS throu...
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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 2005
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100004200