Rett syndrome: clinical and molecular characterization of two Brazilian patients.
BACKGROUND
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.


OBJECTIVE
To describe two cases of Brazilian patients with identified MECP2 mutations.


METHODS
We present two female Brazilian patients with RS.


RESULTS
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.


CONCLUSIONS
Testing for MECP2 mutations is important to confirm diagnosis and to establish genotype/phenotype correlations, and improve genetic counseling.
Stachon
Andrea
A
Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
Assumpção
Francisco Baptista
FB
Raskin
Salmo
S
D000328:Adult; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics*
C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2