Rett Syndrome in Males: A Case Report and Review of Literature

Chahil, Gurneet; Yelam, Anudeep; Bollu, Pradeep C.

doi:10.7759/cureus.3414

Cited by 27 publications

(38 citation statements)

References 16 publications

(18 reference statements)

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“…The implications for treatment decisions include avoiding trigger factors, feeding with special formula diet, and specific medicine. 11,12 Detailed information is listed in Supplementary Table 2.…”

Section: Resultsmentioning

confidence: 99%

Clinical and genetic spectrum of a large cohort of children with epilepsy in China

Yang

Kong

Dong

et al. 2019

Genetics in Medicine

100

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Section: Resultsmentioning

confidence: 99%

Clinical and genetic spectrum of a large cohort of children with epilepsy in China

Yang

Kong

Dong

et al. 2019

Genetics in Medicine

100

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“…Classical RTT is caused by MECP2 mutations with relatively well-defined characteristics, while atypical RTT is characterized by early onset of seizers and developmental delay. Atypical RTT can be seen in patients with genetic mutations in other genes, such as cyclin-dependent kinase-like 5 ( CDKL5 ) and FOXG1 [ 8 , 9 ]. In classical RTT, neurodevelopmental progression seems to be normal during the first six to eighteen months, although subtle symptoms such as muscle hypotonia and deceleration of head growth are usually present earlier in their life but frequently ignored.…”

Section: Clinical Features Diagnosis and Histopathology Of Rttmentioning

confidence: 99%

Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease

Pejhan

Rastegar

2021

Biomolecules

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Rett Syndrome (RTT) is a severe, rare, and progressive developmental disorder with patients displaying neurological regression and autism spectrum features. The affected individuals are primarily young females, and more than 95% of patients carry de novo mutation(s) in the Methyl-CpG-Binding Protein 2 (MECP2) gene. While the majority of RTT patients have MECP2 mutations (classical RTT), a small fraction of the patients (atypical RTT) may carry genetic mutations in other genes such as the cyclin-dependent kinase-like 5 (CDKL5) and FOXG1. Due to the neurological basis of RTT symptoms, MeCP2 function was originally studied in nerve cells (neurons). However, later research highlighted its importance in other cell types of the brain including glia. In this regard, scientists benefitted from modeling the disease using many different cellular systems and transgenic mice with loss- or gain-of-function mutations. Additionally, limited research in human postmortem brain tissues provided invaluable findings in RTT pathobiology and disease mechanism. MeCP2 expression in the brain is tightly regulated, and its altered expression leads to abnormal brain function, implicating MeCP2 in some cases of autism spectrum disorders. In certain disease conditions, MeCP2 homeostasis control is impaired, the regulation of which in rodents involves a regulatory microRNA (miR132) and brain-derived neurotrophic factor (BDNF). Here, we will provide an overview of recent advances in understanding the underlying mechanism of disease in RTT and the associated genetic mutations in the MECP2 gene along with the pathobiology of the disease, the role of the two most studied protein variants (MeCP2E1 and MeCP2E2 isoforms), and the regulatory mechanisms that control MeCP2 homeostasis network in the brain, including BDNF and miR132.

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“…It is a rare pathology affecting quite exclusively females, with an incidence of about 1 over 10,000 births. With very few exceptions [75], the majority of males with RTT die soon after delivery. RTT remains mostly asymptomatic during the first months of postnatal growth.…”

Section: When Genes Affect Development: the Case Of Down Syndrome mentioning

confidence: 99%

From Basic Visual Science to Neurodevelopmental Disorders: The Voyage of Environmental Enrichment-Like Stimulation

et al. 2019

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Genes and environmental stimuli cooperate in the regulation of brain development and formation of the adult neuronal architecture. Genetic alterations or exposure to perturbing environmental conditions, therefore, can lead to altered neural processes associated with neurodevelopmental disorders and brain disabilities. In this context, environmental enrichment emerged as a promising and noninvasive experimental treatment for favoring recovery of cognitive and sensory functions in different neurodevelopmental disorders. The aim of this review is to depict, mainly through the much explicative examples of amblyopia, Down syndrome, and Rett syndrome, the increasing interest in the potentialities and applications of enriched environment-like protocols in the field of neurodevelopmental disorders and the understanding of the molecular mechanisms underlying the beneficial effects of these protocols, which might lead to development of pharmacological interventions.

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Rett Syndrome in Males: A Case Report and Review of Literature

Cited by 27 publications

References 16 publications

Clinical and genetic spectrum of a large cohort of children with epilepsy in China

Clinical and genetic spectrum of a large cohort of children with epilepsy in China

Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease

From Basic Visual Science to Neurodevelopmental Disorders: The Voyage of Environmental Enrichment-Like Stimulation

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