Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome 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. 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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Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.793 ◽

2019 ◽

Vol 7 (8) ◽

Author(s):

Silvia Vidal ◽

Ainhoa Pascual‐Alonso ◽

Marc Rabaza‐Gairí ◽

Edgar Gerotina ◽

Nuria Brandi ◽

...

Keyword(s):

Rett Syndrome ◽

Gene Dosage ◽

Mecp2 Gene ◽

Large Deletions

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Sequence Variations in the Flagellar Antigen Genes fliCH25 and fliCH28 of Escherichia coli and Their Use in Identification and Characterization of Enterohemorrhagic E. coli (EHEC) O145:H25 and O145:H28

PLoS ONE ◽

10.1371/journal.pone.0126749 ◽

2015 ◽

Vol 10 (5) ◽

pp. e0126749 ◽

Cited By ~ 10

Author(s):

Lothar Beutin ◽

Sabine Delannoy ◽

Patrick Fach

Keyword(s):

Escherichia Coli ◽

E Coli ◽

Sequence Variations ◽

Flagellar Antigen ◽

Identification And Characterization

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Genotype-phenotype correlation in Brazillian Rett syndrome patients

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2009000400001 ◽

2009 ◽

Vol 67 (3a) ◽

pp. 577-584 ◽

Cited By ~ 5

Author(s):

Fernanda T. de Lima ◽

Decio Brunoni ◽

José Salomão Schwartzman ◽

Maria Cristina Pozzi ◽

Fernando Kok ◽

...

Keyword(s):

Rett Syndrome ◽

Clinical Evaluation ◽

Peripheral Blood ◽

Point Mutations ◽

Genetic Alterations ◽

Standard Protocol ◽

Mecp2 Gene ◽

Coding Region ◽

Phenotype Correlation ◽

Sequence Variations

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 was performed on peripheral blood DNA by sequencing the coding region of the gene. RESULTS: Classical RS was seen in 68% of the patients. Pathogenic point mutations were found in 64.1% of all patients and in 70.42% of those with the classical phenotype. Four new sequence variations were found, and their nature suggests patogenicity. Genotype-phenotype correlations were performed. CONCLUSION: Detailed clinical descriptions and identification of the underlying genetic alterations of this Brazilian RS population add to our knowledge of genotype/phenotype correlations, guiding the implementation of mutation searching programs.

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