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

ConclusionThese molecular data together with the clinical information enable us to propose a genotype –phenotype correlation, which is essential for providing genetic counseling.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research

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Publication date: Available online 19 July 2019Source: Molecular Aspects of MedicineAuthor(s): Ebrahim Hosseini, Zahra Bagheri-Hosseinabadi, Ilario De Toma, Moslem Jafarisani, Iman SadeghiAbstractIn the last decade, transcriptome analyses have discovered thousands of long non-coding RNAs (lncRNAs) which are assumed as a fundamental part of the gene regulatory networks in the cell. Intriguingly, lncRNAs are abundantly enriched in the brain, displaying elaborate spatiotemporal expression profiles and modulation. They diversely participate in the delicate regulation of the central nervous system (CNS) development including se...
Source: Molecular Aspects of Medicine - Category: Molecular Biology Source Type: research
Condition:   Rett Syndrome Intervention:   Other: An extensive biological assessment Sponsor:   Assistance Publique Hopitaux De Marseille Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Publication date: Available online 5 July 2019Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Eric E. Smeets, Gillian S. Townend, Leopold M.G. Curfs
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
Publication date: Available online 5 July 2019Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Jeffrey Lorenz Neul
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
Abstract Elucidating the functions of a particular gene is paramount to the understanding of how its dysfunction contributes to disease. This is especially important when the gene is implicated in multiple different disorders. One such gene is methyl-CpG-binding protein 2 (MECP2), which has been most prominently associated with the neurodevelopmental disorder Rett syndrome, as well as major neuropsychiatric disorders such as autism and schizophrenia. Being initially identified as a transcriptional regulator that modulates gene expression and subsequently also shown to be involved in other molecular events, dysfunc...
Source: Mol Biol Cell - Category: Molecular Biology Authors: Tags: Methods Mol Biol Source Type: research
We report 2 cases of girls withMECP2 gene variants who do not have typical clinical features of Rett syndrome except for intellectual disability and seizures. Both patients present with adipositas, macrocephalia, precocious puberty, and seizures. They have prominent eyebrows and a short neck as well as short and plump fingers. Sequencing by NGS revealed a novel variant c.1162_1172del; p.Pro388* in both patients.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research
Patients with Rett syndrome (RTT) have severe mental and physical disabilities. The majority of RTT patients carry a heterozygous mutation in methyl-CpG binding protein 2 (MECP2), a X-linked gene encoding an epigenetic factor crucial for normal nerve cell function. No curative therapy for RTT syndrome exists and cellular mechanisms are incompletely understood. Here, we developed a CRISPR/Cas9-mediated system that targets and corrects the disease relevant regions of the MECP2 exon 4 coding sequence. We achieved homologous recombination (HR) efficiencies of 20-30% in human cell lines and iPSCs. Furthermore, we successfully i...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
We report 2 cases of girls withMECP2 gene variants who do not have typical clinical features of Rett syndrome except for intellectual disability and seizures. Both patients present with adipositas, macrocephalia, precocious puberty, and seizures. They have prominent eyebrows and a short neck as well as short and plump fingers. Sequencing by NGS revealed a novel variant c.1162_1172del; p.Pro388* in both patients.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research
Publication date: Available online 26 June 2019Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Angelisa Frasca, Francesco Bedogni, Nicoletta Landsberger
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
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