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.

doi:10.1016/j.bbrc.2018.02.029

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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.

Biochemical and biophysical research communications - 26 Feb 2018

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

Abstract excerpt

Rett syndrome is an X-linked neurodevelopmental disorder that develops a profound intellectual and motor disability and affects 1 from 10 000 to 15 000 live female births. This disease is characterized by a period of apparently normal development until 6-18 months of age when motor and communication abilities regress which is caused by mutations occurred in the X-linked MECP2 gene, encoding the methyl-CpG binding...

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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.

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