Genotype-phenotype correlation in Brazillian Rett syndrome patients
نویسندگان
چکیده
منابع مشابه
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...
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Rett syndrome is a neurodevelopmental disorder that represents one of the most common genetic causes of mental retardation in girls. MECP2 point mutations in exons 2-4 account for about 80% of classic Rett cases and for a lower percentage of variant patients. We investigated the genetic cause in 77 mutation-negative Rett patients (33 classic, 31 variant, and 13 Rett-like cases) by searching mis...
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Mutations in the X-linked gene encoding the methyl-CpG binding protein MeCP2 are the primary cause of classic and atypical Rett syndrome and have recently been shown to contribute to other neurodevelopmental disorders of varying severity. To determine whether there are molecular correlates to the phenotypic heterogeneity, numerous groups have performed genotype-phenotype correlation studies. Th...
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BACKGROUND Deletions and mutations in the NSD1 gene are the major cause of Sotos syndrome. We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration. METHODS Mutation and fluorescence in situ hybridization analysis was performed on blood samples of 59 patie...
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Congenital long QT syndrome, caused by a cardiac channelopathy, is a leading cause of sudden cardiac death in the young population. In total, 16 genes have been implicated in this condition, with three genes being the most commonly affected. Long QT syndrome is one of the earliest conditions for which a genotype specific treatment was designed. This genotype-phenotype correlation extends to inv...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2009
ISSN: 0004-282X
DOI: 10.1590/s0004-282x2009000400001