Article

Novel KIF22 Variants Disrupt Mitosis in Human Chondrocytes and Expand SEMDJL2 Mechanisms

2026-03-13

Abstract excerpt

<h4>ABSTRACT</h4> Spondyloepimetaphyseal dysplasia with joint laxity, type 2 (SEMDJL2) is a rare skeletal disorder caused by pathogenic variants in KIF22, a mitotic chromokinesin that generates polar ejection forces (PEF) to ensure proper chromosome alignment and segregation. Although prior work showed that SEMDJL2-associated KIF22 hotspot variants impair chromosome segregation in epithelial cells, how these vari...

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Literature Corpus work: 4671468e-fc88-5987-a78a-f0096c7a78b5
DOI: 10.64898/2026.03.11.711192

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