Abstract：
:In mammals, methyl-CpG binding proteins play a significant role in the control of gene expression through their association with chromatin-remodeling complexes. Mutations in the gene coding for methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome and have also been reported in a number of X-linked mental retardation diseases. In this study, DNA samples from 363 male individuals with syndromic and non-syndromic mental retardation and other psychiatric diseases were screened for A140V (419C>T) mutation in the MECP2 gene, considered the most frequent MECP2 mutation in males. No 419C>T was found suggesting that the A140V mutation in the MECP2 gene is not a common cause of mental retardation in males. Recently, a new and abundant isoform of MECP2 was described, which has an alternative N-terminus, translated from exon 1, that was previously thought to be non-coding and has been excluded from many mutational screening, as well, the 5' and 3' UTR regions. We consider essential proceeding further screening in the whole extension of the MECP2 gene using clinically well-documented and larger sized sample to assure the overall contribution of MECP2 to mental retardation.
journal_name
Neurosci Lettjournal_title
Neuroscience lettersauthors
dos Santos JM,Abdalla CB,Campos M Jr,Santos-Rebouças CB,Pimentel MMdoi
10.1016/j.neulet.2004.12.036keywords:
subject
Has Abstractpub_date
2005-04-29 00:00:00pages
13-6issue
1eissn
0304-3940issn
1872-7972pii
S0304-3940(04)01560-5journal_volume
379pub_type
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