Article
Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation.
Science advances - 21 Jan 2022
Carvalhal Sara, Bader Ingrid, Rooimans Martin A, Oostra Anneke B, Balk Jesper A, Feichtinger René G, Beichler Christine, Speicher Michael R, van Hagen Johanna M, Waisfisz Quinten, van Haelst Mieke, Bruijn Martijn, Tavares Alexandra, Mayr Johannes A, Wolthuis Rob M F, Oliveira Raquel A, de Lange Job
Abstract excerpt
Budding uninhibited by benzimidazoles (BUB1) contributes to multiple mitotic processes. Here, we describe the first two patients with biallelic BUB1 germline mutations, who both display microcephaly, intellectual disability, and several patient-specific features. The identified mutations cause variable degrees of reduced total protein level and kinase activity, leading to distinct mitotic defects. Both patients’...
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