Identified first patients with new rare disease caused by defects in cell division - Mirage News

Low expression of BUB1 has been associated with spontaneous miscarriages and given its importance for correct cell division, deleterious mutations in this gene were, until now, thought to be incompatible with life.

Although both patients presented cells with abnormal chromosome structure or numbers, the molecular mechanisms underlying these errors in cell division were different between them.

In the future, these new findings might prevent the undefined or misdiagnosis of patients with deleterious BUB1 mutations, with direct consequences for their treatment, prognosis, and follow-up.

The study was developed by Instituto Gulbenkian de Ciência in collaboration with Algarve Biomedical Center Research Institute, Portugal; Unit of Clinical Genetics of the Paracelsus Medical University, Department of Pediatrics of the University Hospital Salzburg, Institute of Human Genetics of the Diagnostic and Research Center for Molecular BioMedicine, Austria; Cancer Center Amsterdam, Department of Clinical Genetics of Amsterdam University Medical Centers, and Northwest Clinics, the Netherlands.