Spectrum of mutations in the MECP2 gene in patients with infantile autism and Rett syndrome

The MeCP2 protein silences methylated chromatin by recruiting a histone deacetylase complex. 9 Unlike most other transcriptional repressor proteins, however, the binding site of MeCP2 occurs frequently in genomic DNA as it requires only a single methylated CpG base pair to bind. The presence of abno...

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Bibliographic Details
Published in:Journal of medical genetics 2000-12, Vol.37 (12), p.e41-41
Main Authors: LAM, CHING-WAN, YEUNG, WAI-LAN, KO, CHUNG-HUNG, POON, PRISCILLA M K, TONG, SUI-FAN, CHAN, KWOK-YIN, LO, IVAN F M, CHAN, LISA Y S, HUI, JOANNIE, WONG, VIRGINIA, PANG, CHI-PUI, LO, Y M DENNIS, FOK, TAI-FAI
Format: Article
Language:English
Subjects:
Age
Amino Acid Sequence
Asian Continental Ancestry Group - genetics
Autism
Autistic Disorder - genetics
Base Sequence
Child, Preschool
Chromatography
Chromosomal Proteins, Non-Histone
Codon, Nonsense
Deoxyribonucleic acid
DNA
DNA methylation
DNA Mutational Analysis
DNA-Binding Proteins - genetics
Electronic Letters
Female
Females
Genes
Humans
Infant
Infant, Newborn
Intellectual disabilities
Methyl-CpG-Binding Protein 2
Molecular Sequence Data
Mutation
Mutation, Missense
Patients
Proteins
Repressor Proteins - genetics
Rett Syndrome - genetics
Studies
Citations: Items that cite this one
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Description
Summary:The MeCP2 protein silences methylated chromatin by recruiting a histone deacetylase complex. 9 Unlike most other transcriptional repressor proteins, however, the binding site of MeCP2 occurs frequently in genomic DNA as it requires only a single methylated CpG base pair to bind. The presence of abnormalities in the untranslated regions of the MECP2 mRNA and genetic regulatory elements have yet to be explored, but it is also possible that another tightly linked locus may be present on chromosome Xq28. [...]the diagnosis of RTT has relied solely on clinical observations.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.37.12.e41