Arquivos de Neuro-Psiquiatria | |
Genotype-phenotype correlation in Brazillian Rett syndrome patients | |
Fernanda T. De Lima1  Decio Brunoni2  José Salomão Schwartzman1  Maria Cristina Pozzi1  Fernando Kok1  Yara Juliano1  Lygia Da Veiga Pereira1  | |
[1] ,UNIFESP Centro de Genética Médica | |
关键词: Rett syndrome; genotype-phenotype correlation; síndrome de Rett; correlações genótipo-fenótipo; | |
DOI : 10.1590/S0004-282X2009000400001 | |
来源: SciELO | |
【 摘 要 】
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.
【 授权许可】
CC BY
All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License
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RO202103040010517ZK.pdf | 443KB | download |