A novel MAP7D1 mutation causes mitotic defects and RPS14 accumulation in Shwachman−Diamond syndrome patient cells

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The MAP7D1 mutation leads to significant mitotic defects in fibroblasts, affecting cell division and stability.
In SDS patient cells, a novel MAP7D1:c.601C>T variant was found to disrupt normal microtubule functions and RPS14 levels.
Cell line experiments identified that overexpressing mutant MAP7D1 also causes similar disruptions seen in SDS fibroblasts.
This research indicates that MAP7D1 plays a crucial role in SDS pathogenesis by impairing microtubule dynamics and ribosomal protein regulation.

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Research uncovers the role of a MAP7D1 mutation increasing RPS14 in Shwachman-Diamond syndrome fibroblasts, suggesting implications for treatment.

Kucukvardar et al. (2025) studied this question.

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Research uncovers the role of a MAP7D1 mutation increasing RPS14 in Shwachman-Diamond syndrome fibroblasts, suggesting implications for treatment.