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

Tehran University of Medical Sciences Immunology and Genetics Journal 2645-4831 3 2 2020 08 01 A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia 39 45 Zahra Ataei Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND ImmunologyToday, Universal Scientific Education and Research Network (USERN), Tehran, Iran Farzad Nazari Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND ImmunologyToday, Universal Scientific Education and Research Network (USERN), Tehran, Iran 2020 04 15 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. 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. https://igj.tums.ac.ir/index.php/igj/article/view/49 https://igj.tums.ac.ir/index.php/igj/article/download/49/39