Genotype-phenotype correlation in Brazillian Rett syndrome patients

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.

Bibliographic Details

Main Authors:	Lima,Fernanda T. de, Brunoni,Decio, Schwartzman,José Salomão, Pozzi,Maria Cristina, Kok,Fernando, Juliano,Yara, Pereira,Lygia da Veiga
Format:	Digital revista
Language:	English
Published:	Academia Brasileira de Neurologia - ABNEURO 2009
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2009000400001
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