A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia (a case report)

Document Type: Case Report


1 Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran

2 ImmunologyToday, Universal Scientific Education and Research Network (USERN), Tehran, Iran



Fanconi Anemia (FA) is a rare genetic disease with a mutation in any of 22 FANC genes were known to date. Among all of FANC genes, most frequent mutation has been reported in FANCA gene worldwide responsible for about 60- 65% of all cases. In this case, we present a new missense mutation in FANCA gene in the Iranian population.