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Mutations in its core components are increasingly linked to neurodevelopmental disorders, such as primary microcephaly. Here, we investigated the role of SNW domain\u2013containing protein 1 (SNW1), a spliceosomal protein, in splicing integrity and neurodevelopment. We identified 9 heterozygous mutations in the\n                    <jats:italic>SNW1<\/jats:italic>\n                    gene in patients presenting with primary microcephaly. These mutations impaired SNW1\u2019s interactions with core spliceosomal proteins, leading to defective RNA splicing and reduced protein functionality. Using\n                    <jats:italic>Drosophila melanogaster<\/jats:italic>\n                    and human embryonic stem cell\u2013derived cerebral organoids models, we demonstrated that\n                    <jats:italic>SNW1<\/jats:italic>\n                    depletion resulted in significant reductions in neural stem cell proliferation and increased apoptosis. RNA-Seq revealed disrupted alternative splicing, especially skipping exons, and altered expression of neurodevelopment-associated genes (\n                    <jats:italic>CENPE<\/jats:italic>\n                    ,\n                    <jats:italic>MEF2C<\/jats:italic>\n                    , and\n                    <jats:italic>NRXN2<\/jats:italic>\n                    ). Our findings provide crucial insights into the molecular mechanisms by which\n                    <jats:italic>SNW1<\/jats:italic>\n                    dysfunction contributes to neurodevelopmental disorders and underscore the importance of proper spliceosome function in brain development.\n                  <\/jats:p>","DOI":"10.1172\/jci186119","type":"journal-article","created":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T12:00:40Z","timestamp":1751544040000},"source":"Crossref","is-referenced-by-count":5,"title":["Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly"],"prefix":"10.1172","volume":"135","author":[{"given":"Lei","family":"Ji","sequence":"first","affiliation":[{"name":"Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, and"},{"name":"Shanghai Institute of Medical Genetics, Shanghai Children\u2019s Hospital, Shanghai Jiao Tong University, Shanghai, 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