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Introduction And Methods: We report two series of individuals with DDX3X variations, one (48 individuals) from physicians and one (44 individuals) from caregivers.
Results: These two series include several symptoms in common, with fairly similar distribution, which suggests that caregivers' data are close to physicians' data. For example, both series identified early childhood symptoms that were not previously described: feeding difficulties, mean walking age, and age at first words.
Discussion: Each of the two datasets provides complementary knowledge. We confirmed that symptoms are similar to those in the literature and provides more details on feeding difficulties. Caregivers considered that the symptom attention-deficit/hyperactivity disorder were most worrisome. Both series also reported sleep disturbance. Recently, anxiety has been reported in individuals with DDX3X variants. We strongly suggest that attention-deficit/hyperactivity disorder, anxiety, and sleep disorders need to be treated.
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http://dx.doi.org/10.1002/mgg3.2363 | DOI Listing |
Sci Rep
July 2025
Department of Biostatistics, School of Public Health, Suzhou Medical College of Soochow University, Suzhou, 215123, People's Republic of China.
As the crucial component of the glioma microenvironment, tumor-associated macrophages (TAMs) significantly contribute to the immunosuppressive microenvironment and strongly influence glioma progression via various signaling molecules, simultaneously providing new insight into therapeutic strategies. Studies are aiming at developing prognostic models using N7-methylguanosine (m7G)-related genes in gliomas, however, models with good predictive performance for lower-grade gliomas have yet to be developed. Based on genes with m7G variants and clinical information, two prediction models have been derived to predict the probability of survival for patients with lower-grade gliomas in TCGA.
View Article and Find Full Text PDFCells
June 2025
Genetic Medico-Diagnostic Laboratory Genica, 1000 Sofia, Bulgaria.
Autism spectrum disorder (ASD) is a neurodevelopmental impairment that occurs due to mutations related to the formation of the nervous system, combined with the impact of various epigenetic and environmental factors. This necessitates the identification of the genetic variations involved in ASD pathogenesis. We performed whole exome sequencing (WES) in a cohort of 22 Bulgarian male and female individuals showing ASD features alongside segregation analyses of their families.
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June 2025
Department of Reproductive Medicine, The Second Affiliated Hospital of Kunming Medical University, Kunming, 650101, China.
Polycystic Ovary Syndrome (PCOS) lacks specific biomarkers for early diagnosis. Recent evidence implicates cuproptosis, a copper-induced regulated cell death pathway, and N6-methyladenosine (m6A) RNA modifications in metabolic and inflammatory processes central to PCOS pathogenesis. This study aimed to construct integrated diagnostic signatures based on cuproptosis- and m6A-related gene expression.
View Article and Find Full Text PDFHum Mol Genet
July 2025
Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, 355 Luding Road, Putuo District, Shanghai 200062, China.
DDX3X neurodevelopmental disorder (DDX3X-NDD) represents a recently identified genetic syndrome characterized by intellectual disability (ID) and developmental delays, primarily caused by pathogenic variants in the DDX3X gene. The physiological ramifications of these mutations remain largely unexplored. In this study, we reported 21 DDX3X variants from 22 Chinese patients with DDX3X-NDD by whole exome sequencing.
View Article and Find Full Text PDFJMA J
April 2025
Division of Molecular Oncology, National Cancer Center Research Institute, Tokyo, Japan.
Peripheral T-cell lymphoma (PTCL) is a heterogeneous group of mature T-cell neoplasms with different clinical, biological, and molecular features. These include PTCL, not otherwise specified, nodal T follicular helper cell lymphomas (nTFHLs), anaplastic large cell lymphoma (ALCL), extranodal natural killer (NK)/T-cell lymphoma (ENKTL), and adult T-cell leukemia/lymphoma (ATLL). Over the past decade, several genetic studies using targeted, whole-exome, and more recently whole-genome sequencing have identified numerous driver alterations in PTCLs.
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