Mild presentation of the congenital variant Rett syndrome in a Pakistani male: expanding the phenotype of the forkhead box protein G1 spectrum

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Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

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The article by Hou et al. [1] evaluated item and score distributions and test-retest reliability for the Rett Syndrome Behaviour Questionnaire (RSBQ) [2] in 149 patients with Rett syndrome (RTT). The authors report that total, but not domain scores were normally distributed and Cronbach alpha values indicated good internal consistency. However, the scale had poor test-retest reliability and approximately half of the items exhibited floor or ceiling effects.
Source: Pediatric Neurology - Category: Neurology Authors: Tags: Correspondence Source Type: research
What Is the Life Expectancy of a Person with Rett Syndrome?
Source: - Category: General Medicine Source Type: news
In conclusion, our proteomic analysis confirms the pathological relevance of mitochondrial dysfunction in RTT pathogenesis and progression. PMID: 32445864 [PubMed - as supplied by publisher]
Source: Free Radical Biology and Medicine - Category: Biology Authors: Tags: Free Radic Biol Med Source Type: research
Methyl-CpG-binding protein 2 (MeCP2) encoded by theMECP2 gene is a transcriptional regulator whose mutations cause Rett syndrome (RTT).Mecp2-deficient mice show fear regulation impairment; however, the cellular and molecular mechanisms underlying this abnormal behavior are largely uncharacterized. Here, we showed thatMecp2 gene deficiency in cholinergic interneurons of the nucleus accumbens (NAc) dramatically impaired fear learning. We further found that spontaneous activity of cholinergic interneurons inMecp2-deficient mice decreased, mediated by enhanced inhibitory transmission via α2-containing GABAA receptors. Wi...
Source: eLife - Category: Biomedical Science Tags: Neuroscience Source Type: research
AbstractThe K ölliker‐Fuse nucleus (KF) is a functionally distinct component of the parabrachial complex, located in the dorsolateral pons of mammals. The KF has a major role in respiration and upper airway control. A comprehensive understanding of the KF and its contributions to respiratory function and dysfu nction requires an appreciation for its neurochemical characteristics. The goal of this review is to summarize the diverse neurochemical composition of the KF, focusing on the neurotransmitters, neuromodulators and neuropeptides present. We also include a description of the receptors expressed on KF neurons an...
Source: Journal of Neurochemistry - Category: Neuroscience Authors: Tags: REVIEW ARTICLE Source Type: research
To date, at least 746 genes have been identified to cause intellectual disability (ID). Among them, mutations in the Methyl CpG binding protein 2 (MECP2) gene are the leading cause of Rett syndrome and associated...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Research article Source Type: research
Deleterious mutations of MECP2 are responsible for Rett syndrome, a severe X-linked childhood neurodevelopmental disorder predominates in females, male patients are considered fatal. However, increasing reports indicate that some MECP2 mutations may also present various neuropsychiatric phenotypes, including intellectual disability, autism spectrum disorder, depression, cocaine addiction, and schizophrenia in both males and females, suggesting varied clinical expressivity in some MECP2 mutations. Most of the MECP2 mutations are private de novo mutations. To understand whether MECP2 mutations are associated with schizophren...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Rett Syndrome is a devastating neurodevelopmental disorder resulting from mutations in the geneMECP2. Mutations ofMecp2restricted to GABAergic cell types largely replicate the behavioral phenotypes associated with mouse models of Rett Syndrome, suggesting a pathophysiological role for inhibitory interneurons. Recent work has suggested that vasoactive intestinal peptide-expressing (VIP) interneurons may play a critical role in the proper development and function of cortical circuits, making them a potentially key point of vulnerability in neurodevelopmental disorders. However, little is known about the role of VIP interneur...
Source: eLife - Category: Biomedical Science Tags: Neuroscience Source Type: research
Mutations in X-linked methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome (RTT). To identify functional pathways that could inform therapeutic entry points, we carried out a genetic screen for secondary mutations that improved phenotypes in Mecp2/Y mice after mutagenesis with N-ethyl-N-nitrosourea (ENU). Here, we report the isolation of 106 founder animals that show suppression of Mecp2-null traits from screening 3177 Mecp2/Y genomes. Whole-exome sequencing, genetic crosses, and association analysis identified 22 candidate genes. Additional lesions in these candidate genes or pathway components associate variant allel...
Source: Genome Research - Category: Genetics & Stem Cells Authors: Tags: RESEARCH Source Type: research
Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The diagnostic criteria of RTT are clinical; mutations in MECP2 are neither diagnostic nor necessary, and a mutation in another gene does not exclude RTT. We attempted to correlate genotype and phenotype to see if there are significant clinical associations.
Source: Brain and Development - Category: Neurology Authors: Tags: Original article Source Type: research
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