Rett syndrome: clinical and molecular characterization of two Brazilian patients

Rett syndrome (RS) is recognized as a pan-ethnic condition. Since the identification of mutations in the MECP2 gene, more patients have been diagnosed, and a broad spectrum of phenotypes has been reported. There is a lack of phenotype-genotype studies. To describe two cases of Brazilian patients wit...

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Bibliographic Details
Published in:Arquivos de neuro-psiquiatria 2007-03, Vol.65 (1), p.36-40
Main Authors: Stachon, Andrea, Assumpção, Jr, Francisco Baptista, Raskin, Salmo
Format: Article
Language:English
Subjects:
Adult
Child, Preschool
Female
Humans
Male
Methyl-CpG-Binding Protein 2 - genetics
Mutation
NEUROSCIENCES
Phenotype
PSYCHIATRY
Rett Syndrome - diagnosis
Rett Syndrome - genetics
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Summary:Rett syndrome (RS) is recognized as a pan-ethnic condition. Since the identification of mutations in the MECP2 gene, more patients have been diagnosed, and a broad spectrum of phenotypes has been reported. There is a lack of phenotype-genotype studies. To describe two cases of Brazilian patients with identified MECP2 mutations. We present two female Brazilian patients with RS. Both patients presented with regression at 2-3 years of age, when stereotypic hand movements, social withdrawal and postnatal deceleration of head growth rate were observed. Both patients presented verbal communication impairment. Case 1 had loss of purposeful hand movements, and severe seizure episodes. Case 2 had milder impairment of purposeful hand movements, and no seizures. They had different mutations, D97Y and R294X, found in exons 3 and 4 of MECP2 gene, respectively. Testing for MECP2 mutations is important to confirm diagnosis and to establish genotype/phenotype correlations, and improve genetic counseling.
ISSN:0004-282X
1678-4227
0004-282X
DOI:10.1590/S0004-282X2007000100009