Rett syndrome is characterized by severe global developmental impairments with autistic features and loss of purposeful hand skills. Here we show that human induced pluripotent stem cell (hiPSC) lines derived from four Japanese female patients with Rett syndrome are generated from peripheral blood mononuclear cells using Sendai virus vectors. The generated hiPSC lines showed self-renewal and pluripotency and carried heterozygous frameshift, missense, or nonsense mutations in the MECP2 gene. Since the molecular pathogenesis caused by MECP2 dysfunction remains unclear, these cell resources are useful tools to establish disease models and develop new therapies for Rett syndrome.
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http://dx.doi.org/10.1016/j.scr.2024.103432 | DOI Listing |
Diagnostics (Basel)
December 2024
Genetics Department, Hospital Sant Joan de Déu, Member of ERN-ITHACA, 08950 Esplugues de Llobregat, Spain.
: duplication syndrome (MDS) (MIM#300260) is a rare X-linked neurodevelopmental disorder. This study aims to (1) develop a specific clinical severity scale, (2) explore its correlation with clinical and molecular variables, and (3) automate diagnosis using the Face2gene platform. : A retrospective study was conducted on genetically confirmed MDS patients who were evaluated at a pediatric hospital between 2012 and 2024.
View Article and Find Full Text PDFJ Clin Med
December 2024
Department and Clinic of Rheumatology, Rehabilitation and Internal Diseases, Poznan University of Medical Sciences, 28 Czerwca 1956 r. 135/147, 61-545 Poznań, Poland.
DDX3X syndrome is often misdiagnosed as autism spectrum disorder (ASD, Rett Syndrome, and Dandy-Walker Syndrome). Precise phenotyping is needed with reference to neurodevelopmental diagnosis. Observation of behavior and communication in parents with DDX3X syndrome in the USA, France, and Poland; conversations with the parents of patients; and rudimentary information in evidence-based medical articles prompted us to identify differences in communication, play, and social interaction between children with ASD only, those with both ASD and , and those with only.
View Article and Find Full Text PDFCells
December 2024
Department of Neurobiology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Rett syndrome (RTT), which predominantly affects females, arises in most cases from mutations in the () gene. When MeCP2 is impaired, it disrupts the regulation of numerous genes, causing the production of dysfunctional proteins associated with various multi-systemic issues in RTT. In this review, we explore the current insights into molecular signaling related to monoamines, immune response, and mitochondrial function, and their implications for the pathophysiology of RTT.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Background: Neurodevelopmental disorders (NDDs) affect approximately 15% of children and adolescents worldwide. This group of disorders is often polygenic with varying risk factors, with many associated genes converging on shared molecular pathways, including chromatin regulation and transcriptional control. Understanding how NDD-associated chromatin regulators and protein complexes orchestrate these regulatory pathways is crucial for elucidating NDD pathogenesis and developing targeted therapeutic strategies.
View Article and Find Full Text PDFGenes (Basel)
December 2024
Department of Child and Adolescent Psychiatry, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London SE5 8AF, UK.
Genomic sequencing has the potential to revolutionise newborn screening (NBS) programmes. In 2024, Genomics England began to recruit for the Generation Study (GS), which uses whole genome sequencing (WGS) to detect genetic changes in 500 genes in more than 200 rare conditions. Ultimately, its purpose is to facilitate the earlier identification of rare conditions and thereby improve health-related outcomes for individuals.
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