FANCA and contribution of studies from Asian populations to the understanding of fanca mediated Fanconi anemia

摘要

Fanconi anemia (FA) is a recessive disorder known to cause hematological and several congenital deformities in affected individuals worldwide. Out of 22 known FA causative genes, mutations in Fanconi Anemia Complementation Group A (FANCA) accounts for 60%-70% of FA cases. FANCA is a multi-functional protein essential for genome integrity. Although many physiological roles of FANCA have been delineated but exact etiopathomechanism of FANCA in FA phenotype is yet to be elucidated. FANCA is a hypermutable and highly polymorphic gene therefore identification and interpretation of mutations implicated in recessively inherited FA can fill gaps in existing knowledge of molecular mechanisms. This review is divided into two sections. The first section described known functions of FANCA important for genomic integrity perpetuation. The second part summarized all mutations of FANCA gene reported in FA patients from Asian populations on the basis of literature published till March 2019. It provides an overview of strategies used for these mutations identification, mutation hot spots for specific Asian populations and necessitates the need of extensive global as well as regional molecular genetics research efforts mainly in less explored inbred Asian countries to formulate diagnostic and targeted therapeutic measures.