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Updated: Jan 25, 2026

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剪接因子基因SF3B1中的de novo变异与神经发育障碍有关

Kevin Uguen1,2,3, Tiffany Bergot1,4, Marie-Pier Scott-Boyer5

  • 1Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.

Nature communications
|January 23, 2026
PubMed
概括

新的研究确定了SF3B1基因中的宪法异合体变异,这对于RNA拼接至关重要,在患有神经发育障碍的个体中. 这些 de novo SF3B1 变种影响了拼接,导致了多样化的临床表型.

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