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Klinefelter Syndrome: a neurodevelopmental disease of the synapse

GSE294485 Homo sapiens Expression profiling by high throughput sequencing 6 samples Submitted 2026/04/27 Platform GPL34284
Summary
Klinefelter syndrome (KS; 47, XXY) is the most common sex chromosome disorder, affecting approximately 1 in every 500 to 650 newborn males. Children with KS display a spectrum of phenotypic manifestations, including abnormal neurocognitive phenotypes. However, due to the limited research focusing on the central nervous system (CNS), our understanding of the neurobiology of KS at the cellular and molecular levels remains largely unclear. In this study, we utilized brain organoids derived from pluripotent stem cells to explore the mechanisms underlying early brain developmental defects in KS patients. We demonstrate that KS organoids display altered neurogenesis, gliogenesis, and glutamate signaling pathways. We believe these early alterations contribute to the abnormal brain development and later cognitive phenotypes in KS patients.
Published in
Klinefelter syndrome: A neurodevelopmental disease of the synapse
Zhao H, Zhou D, Feng Y et al. · Neurobiology of disease 2025 · PMID 40578768 · doi:10.1016/j.nbd.2025.107010
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Also filed as BioProject PRJNA1250283 and SRA study SRP578361. Searching any of these in the dataset finder brings you back here.

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