Except for the mutations in patient 4, all of the detected pathogenic variants had not yet been listed in the Fanconi Anemia Mutation Database (http://www.rockefeller.edu/fanconi/) such that we consider the identification of missense, nonsense and splice site mutations as well as a 2-bp insertion in FANCD1, FANCD2 and FANCJ by WES a challenging task and major accomplishment. The gene discussed is FANCD2; the disease is Fanconi anemia.