First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation.

Ghorbel, Rania; Ghorbel, Raouia; Rouissi, Aida; Fendri-Kriaa, Nourhene; Ben Salah, Ghada; Belguith, Neila; Ammar-Keskes, Leila; Gouider-Khouja, Neziha; Fakhfakh, Faiza

Ghorbel, Rania; Ghorbel, Raouia; Rouissi, Aida; Fendri-Kriaa, Nourhene; Ben Salah, Ghada; Belguith, Neila; Ammar-Keskes, Leila; Gouider-Khouja, Neziha; Fakhfakh, Faiza.

Afiliación

Ghorbel R; Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia. Electronic address: ghoraniabel@yahoo.fr.
Ghorbel R; Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Rouissi A; Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, La Rabta, Tunis 1007, Tunisia.
Fendri-Kriaa N; Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Ben Salah G; Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Belguith N; Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Ammar-Keskes L; Laboratory of Human Molecular Genetics, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Gouider-Khouja N; Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, La Rabta, Tunis 1007, Tunisia.
Fakhfakh F; Laboratory of Molecular and Functional Genetics, Faculty of Sciences of Sfax, University of Sfax, Sfax, Tunisia.

Biochem Biophys Res Commun ; 497(1): 93-101, 2018 02 26.

Article en En | MEDLINE | ID: mdl-29421650

Asunto(s)

Análisis Mutacional de ADN/métodos; Predisposición Genética a la Enfermedad/genética; Discapacidad Intelectual Ligada al Cromosoma X/genética; Proteína 2 de Unión a Metil-CpG/genética; Mutación/genética; Síndrome de Rett/genética; Preescolar; Represión Epigenética/genética; Femenino; Marcadores Genéticos/genética; Pruebas Genéticas/métodos; Humanos; Patología Molecular/métodos; Fenotipo; Dominios Proteicos/genética; Análisis de Secuencia de ADN/métodos; Índice de Severidad de la Enfermedad

Palabras clave

(c.695G>T;p.G232V); (c.880â¯C>T;p.R294X); MECP2; Rett syndrome; TRD (transcription repression domain)

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Análisis Mutacional de ADN / Síndrome de Rett / Predisposición Genética a la Enfermedad / Discapacidad Intelectual Ligada al Cromosoma X / Proteína 2 de Unión a Metil-CpG / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Biochem Biophys Res Commun Año: 2018 Tipo del documento: Article Pais de publicación: Estados Unidos

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