FANCA encodes a DNA repair protein essential for interstrand cross-link (ICL) repair and maintenance of chromosome 16 1. As a core component of the Fanconi anemia (FA) nuclear complex, FANCA functions in postreplication repair and cell cycle checkpoint control, with all pathogenic missense mutations preventing nuclear localization and FA/BRCA pathway activation 1. Mutations in FANCA cause Fanconi anemia, an autosomal recessive disorder characterized by congenital abnormalities, progressive bone marrow failure, and marked cancer predisposition 2. FANCA accounts for approximately 58% of FA cases in some populations and represents the most commonly mutated complementation group 2. The disease manifests with skeletal and skin deformities, hematologic complications including pancytopenia, and cancer susceptibility, with splicing or deletion mutations generally causing more severe phenotypes than missense variants 3. Beyond classical FA presentation, FANCA mutations have been identified in primary ovarian insufficiency cases, suggesting broader roles in meiosis and reproductive function 4. Molecular characterization reveals extensive allelic heterogeneity with both recurrent and population-specific mutations, complicating genetic diagnosis but essential for accurate genotype-phenotype correlation and clinical management 5.