Scientific study identifies first two patients with new syndrome

Defective chromosome separation in a cell derived from a patient with biallelic mutations in the BUB1 gene. Mitotic chromosomes, magenta; centromeres, green; spindle, blue © Sara Carvalhal, 2022

A new study published in Science Advances described the first two patients known to have mutations in both copies of BUB1, a critical gene for cell division. Contrary to previous thoughts, these mutations are compatible with life albeit associated with developmental problems. The identification and clinical/molecular characterization of such mutations could improve the diagnosis of this rare neurodevelopmental disorder and the understanding of syndromes with similar features. The study was developed by Instituto Gulbenkian de Ciência in collaboration with Algarve Biomedical Center Research Institute and institutions in Austria and the Netherlands.

Check the latest news in the press about the study (in Portuguese):

in Expresso

in RTP

in SIC Notícias

in CNN

in National Geographic

Updated on 18 august 2022

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