Importantly, while few recurrent mutations (i.e., truncation of exon 4 in Spanish gypsies or mutations in exons 13, 36, and 38) have been observed in FA-A patients, FANCA mutations are generally private mutations, which include point mutations, microinsertions, microdeletions, splicing mutations and large intragenic deletions (Castella et al, 2011). The gene discussed is FANCA; the disease is Fanconi anemia complementation group A.