Genotype-phenotype correlation in Brazillian Rett syndrome patients.

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.

journal_name

Arq Neuropsiquiatr

authors

Lima FT,Brunoni D,Schwartzman JS,Pozzi MC,Kok F,Juliano Y,Pereira Lda V

doi

10.1590/s0004-282x2009000400001

subject

Has Abstract

pub_date

2009-09-01 00:00:00

pages

577-84

issue

3A

eissn

0004-282X

issn

1678-4227

pii

S0004-282X2009000400001

journal_volume

67

pub_type

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