DETECTION OF BOREALIN MUTATIONS FOR DIAGNOSING THYROID DYSGENESIS

摘要

The present inventors have identified Borealin, which is a major component of the Chromosomal Passenger Complex (CPC), as being involved in thyroid dysgenesis. They have demonstrated that patients suffering from thyroid dysgenesis displayed mutations in the borealin gene. Thus, the present invention relates to a method for diagnosing or predicting thyroid dysgenesis in a subject, wherein a mutation in the CDCA8 gene is detected in a sample comprising DNA and/or RNA from said subject and wherein the presence of a mutation in the CDCA8 gene is indicative of thyroid dysgenesis. Mutations in the CDCA8 gene can be detected in any appropriate sample, particularly in a blood sample or a tissue sample.