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Comparative Study
, 379 (1), 13-6

The A140V Mutation in the MECP2 Gene Is Not a Common Etiological Factor Among Brazilian Mentally Retarded Males

Comparative Study

The A140V Mutation in the MECP2 Gene Is Not a Common Etiological Factor Among Brazilian Mentally Retarded Males

Jussara Mendonça dos Santos et al. Neurosci Lett.


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.

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Cited by 2 PubMed Central articles

  • The Array of Clinical Phenotypes of Males With Mutations in Methyl-CpG Binding Protein 2
    JL Neul et al. Am J Med Genet B Neuropsychiatr Genet 180 (1), 55-67. PMID 30536762.
    Mutations in the X-linked gene MECP2 are associated with a severe neurodevelopmental disorder, Rett syndrome (RTT), primarily in girls. It had been suspected that mutatio …
  • MECP2 Mutations in Males
    L Villard. J Med Genet 44 (7), 417-23. PMID 17351020. - Review
    Rett syndrome (RS; MIM 312750) is a severe neurological disorder affecting exclusively females. Its prevalence is about 1 in 10,000 female births, and it is a prominent c …

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