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

Fanconi Anemia (FA) is a rare genetic disease identified by a mutation in any of THE 22 FA associated genes that are linked with bone marrow failure and immunodeficiency. Of all FA associated genes, the most frequent mutation has been reported in the FANCA gene worldwide, which is responsible for about 60- 65% of all cases. In this study, we presented a case with a new missense mutation in the FANCA gene among the Iranian population. Accordingly, bruising around the eyes as the first symptom was manifested in an around 10-years-old case, along with lung infection, and pancytopenia while normal serum immunoglobulin levels were also observed.