Genotype-phenotype correlation in Brazillian Rett syndrome patients

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Artigo
Date
2009
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Arquivos de Neuro-Psiquiatria
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8
Authors
De Lima F.T.
Brunoni D.
Schwartzman J.S.
Pozzi M.C.
Kok F.
Juliano Y.
Pereira L.D.V.
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Abstract
Background: Rett syndrome (RS) is a severe neurodevelopmental X-linked dominant disorder caused by mutations in the MECP2 gene. Purpose: To search for point mutations on the MECP2 gene and to establish a correlation between the main point mutations found and the phenotype. Method: Clinical evaluation of 105 patients, following a standard protocol. Detection of point mutations on the MECP2 gene was performed on peripheral blood DNA by sequencing the coding region of the gene. Results: Classical RS was seen in 68% of the patients. Pathogenic point mutations were found in 64.1% of all patients and in 70.42% of those with the classical phenotype. Four new sequence variations were found, and their nature suggests patogenicity. Genotype-phenotype correlations were performed. Conclusion: Detailed clinical descriptions and identification of the underlying genetic alterations of this Brazilian RS population add to our knowledge of genotype/phenotype correlations, guiding the implementation of mutation searching programs.
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