Fanconi anemia is an aggressive, life-threatening disorder. Most individuals living with this rare genetic condition, characterized by bone marrow failure and cancer predisposition, survive into adulthood only with bone marrow transplantation and regular cancer screening. But a new study demonstrates that mutations in one particular gene in the Fanconi anemia pathway result in an even more severe form of the disorder-and that many fetuses with this mutation do not survive to birth.
The sobering findings, published in the Journal of Clinical Investigation, identify this gene as FANCX and demonstrate just how essential it is to DNA repair.
What’s so striking is the severity. We’re seeing a lot of miscarriages, or children not living very long, which illustrates the importance of this gene and the…