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Jornal de Pediatria
On-line version ISSN 1678-4782
VEIGA, Marielza Fernández and TORALLES, Maria Betânia Pereira. Neurological manifestation and genetic diagnosis of Angelman, Rett and Fragile-X syndromes. J. Pediatr. (Rio J.) [online]. 2002, vol.78, suppl.1, pp.S55-S62. ISSN 1678-4782. http://dx.doi.org/10.1590/S0021-75572002000700009.
Objective: to discuss clinical and electroencephalographic aspects and the genetic mechanisms of three neurogenic syndromes that can be related to nosologic entities in the heterogenic pathological group presenting symptoms of mental retardation and autism. Sources: the authors carried out a bibliographic review on each syndrome involved, correlating and characterizing the neurological manifestations, as well as describing genetic mechanisms and identifying biological markers. Summary of the findings: the authors were able to confirm that Rett Sydrome is a genetic disease resulting from the mutation of the MECP2 gene and clinical variations can be explained by different mutations in this gene. Angelman syndrome has four genetic mechanisms responsible for phenotypic variations and different risks of recurrence. In Fragile-X syndrome, the degree of cognitive impairment is related to the number of trinucleotide repeats. Conclusions: different genetic mechanisms of the three syndromes are responsible for clinical variability. By identifying the biological markers, the diagnosis will be performed earlier and it will be possible to identify new subtle expressions of the disease.
Keywords : Angelman; Rett; X-Fragile; EGG; biological markers; mental retardation; autism.