A protein-truncating mutation in CCNB3 in a patient with recurrent miscarriages and failure of meiosis I

Our patient suffered from 16 miscarriages and spent more than 20 years looking for treatments that could allow her to have live births but without success. She changed countries, cities, and medical centers, and sought the help of the best specialists but with no cure or satisfying answers. Her desire to understand the causes of her miscarriages led her to participate in our research program and allowed us to identify the defective gene causing her recurrent miscarriages. Her sad story illustrates the struggle of such patients to conceive and that of the physicians managing them. It also sends a message to the medical community that despite the difficulties in identifying the genetic causes of recurrent miscarriages, some patients may benefit from next generation sequencing. Thus, the benefit of the minority justifies the use of this approach in molecular diagnosis. (By Professor Rima Slim, https://jmg.bmj.com/content/early/2021/05/19/jmedgenet-2021-107875 )

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