FANCA and Fanconi anemia: Therefore, based on its progressive development of pancytopenia, bone marrow failure, congenital developmental abnormalities, positive chromosome breakage test, and homozygous gene mutations, the patient was diagnosed with Fanconi anemia caused by a novel homozygous mutation in the FANCA gene, c.2222G > A (p.Arg741Lys), which is a pathogenic mutation.