Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients

2010 ◽  
Vol 32 (10) ◽  
pp. 843-848 ◽  
Author(s):  
Leila Schuindt Monnerat ◽  
Aline dos Santos Moreira ◽  
Maria Carolina Viana Alves ◽  
Cibele Rodrigues Bonvicino ◽  
Fernando Regla Vargas
Keyword(s):  
Rett Syndrome ◽  
Mecp2 Gene ◽  
Sequence Variations ◽  
Identification And Characterization

scholarly journals Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans

2005 ◽  
Vol 5 (3) ◽  
pp. 173-182 ◽  
Author(s):  
A Gaedigk ◽  
A Bhathena ◽  
L Ndjountché ◽  
R E Pearce ◽  
S M Abdel-Rahman ◽  
...  
Keyword(s):  
African Americans ◽  
Cyp2d6 Gene ◽  
Sequence Variations ◽  
Identification And Characterization

scholarly journals Rett syndrome: clinical and molecular characterization of two Brazilian patients

2007 ◽  
Vol 65 (1) ◽  
pp. 36-40 ◽  
Author(s):  
Andrea Stachon ◽  
Francisco Baptista Assumpção Jr ◽  
Salmo Raskin
Keyword(s):  
Growth Rate ◽  
Genetic Counseling ◽  
Rett Syndrome ◽  
Broad Spectrum ◽  
Social Withdrawal ◽  
Hand Movements ◽  
Mecp2 Gene ◽  
Head Growth ◽  
Communication Impairment

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.

scholarly journals Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis

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

scholarly journals Genotype-phenotype correlation in Brazillian Rett syndrome patients

2009 ◽  
Vol 67 (3a) ◽  
pp. 577-584 ◽  
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.

scholarly journals Erratum: Identification and characterization of novel sequence variations in the cytochrome P4502D6 (CYP2D6) gene in African Americans

2005 ◽  
Vol 5 (4) ◽  
pp. 276-276 ◽  
Author(s):  
A Gaedigk ◽  
A Bhathena ◽  
L Ndjountché ◽  
R E Pearce ◽  
S M Abdel-Rahman ◽  
...  
Keyword(s):  
African Americans ◽  
Cyp2d6 Gene ◽  
Sequence Variations ◽  
Identification And Characterization
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