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Arq Neuropsiquiatr. 2007 Mar;65(1):36-40.

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

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1
Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.

Abstract

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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PMID:
17420824
[Indexed for MEDLINE]
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