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Rett syndrome (RTT) is a neurodevelopmental disorder occurring almost exclusively in females and leading to a variety of impairments and disabilities from mild to severe. In >95% cases, RTT is due to mutations in the X-linked gene MECP2, but the molecular mechanisms determining RTT are unknown at present, and the complexity of the system is challenging. To facilitate and provide guidance to the unraveling of those mechanisms, we developed a database resource for the visualization and analysis of the genomic landscape in the context of wild-type or mutated Mecp2 gene in the mouse model. Our resource allows for the exploration of differential dynamics of gene expression and the prediction of new potential MECP2 target genes to decipher the RTT disorder molecular mechanisms. Database URL: https://biomedinfo.di.unipi.it/rett-database/.
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http://dx.doi.org/10.1093/database/baae109 | DOI Listing |
Orphanet J Rare Dis
September 2025
Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Epicare Network for Rare Disease, Genoa, Italy.
Background: Rett Syndrome (RTT) is a rare, and severe neurodevelopmental disorder that primarily affects females and is primarily (> 96%) due to pathogenic loss-of-function genetic variants of methyl-CpG-binding protein 2 (MECP2). Despite the rarity of the syndrome, sporadic twin cases have been reported. The descriptions have often focused on the phenotype, emphasizing differences or similarities.
View Article and Find Full Text PDFJCEM Case Rep
October 2025
Department of Pediatrics, Rhode Island Hospital/Hasbro Children's, Brown University Health, The Warren Alpert Medical School of Brown University, Providence, RI 02903, USA.
Individuals with Noonan syndrome (NS) are predisposed to hematologic cancers, solid tumors, and low-grade gliomas. We report an 8-year-old girl originally referred at age 14 months for short stature, developmental delay, and failure to thrive who was subsequently found to have pathogenetic variants both in and Family history included a maternal half-sister with NS and a mother carrying the mutation. Familial single-gene testing showed a heterozygous pathogenic variant in (c.
View Article and Find Full Text PDFFront Drug Discov (Lausanne)
February 2025
Department of Internal Medicine, University of California Davis Medical Center, Sacramento, CA, United States.
Introduction: Rett Syndrome is a genetic neurodevelopmental disorder caused by decreased levels of MeCP2. Due to mutations in the gene, insufficient MeCP2 protein levels lead to clinical phenotypes including the loss of normal movement, decreased communication, seizures, sleep disorders, and breathing problems. Currently there is no cure for Rett Syndrome and the only means to help patients is palliative care directed to their specific symptoms.
View Article and Find Full Text PDFOrphanet J Rare Dis
September 2025
Department of Health Sciences, University of Milan, Via Antonio di Rudinì 8, Milano, Italy.
Background: Cellular senescence is a biological process in which the cell cycle is arrested in response to DNA damage caused by different endogenous and exogenous stimuli. In senescent cells, activation of intracellular cascade induces epigenetic, morphological and metabolic changes. Among them, senescent status is characterized by an alteration of the epigenome and the establishment of a peculiar senescence-associated secretory phenotype (SASP), which contributes to the extracellular matrix remodeling and senescence spreading.
View Article and Find Full Text PDFAnn Child Neurol Soc
June 2025
University of Pennsylvania, Perelman School of Medicine, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.
Objective: To assess clinical features of Rett Syndrome (RTT) at registration into the NIH-sponsored Natural History (NH) study using the Clinical Severity Scale (CSS).
Introduction: The CSS was established in 2000 to assess characteristics of individuals with RTT and related disorders. We analyzed the CSS at enrollment into the NH study of all individuals with classic RTT.