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Rett syndrome: clinical and molecular characterization of two Brazilian patients
Andrea Stachon1, Francisco Baptista Assumpção, Salmo Raskin
1Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.
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.
Method:
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.
Conclusion:
Testing for MECP2 mutations is important to confirm diagnosis and to establish genotype/phenotype correlations, and improve genetic counseling.
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