Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing

Samira Negahdari, Mina Zamani, Tahereh Seifi, Sahar Sedighzadeh, Neda Mazaheri, Jawaher Zeighami, Alireza Sedaghat, Alihossein Saberi, Mohammad Hamid, Bijan keikhaei, Ramin Radpour, Gholamreza Shariati, Hamid Galehdari


Background: Various blood diseases are caused by mutations in the FANCA, FANCC, and ITGA2B genes. Exome sequencing is a suitable method for identifying single‑gene disease and genetic heterogeneity complaints

Methods: Among families who were referred to Narges Genetic and PND
Laboratory in 2015‑2017, five families with a history of blood diseases were analyzed using the whole exome sequencing (WES) method

Results: We detected two novel mutations (c.190‑2A>G and c.2840C>G) in the FANCA gene, c. 1429dupA mutation in the FANCC gene, and c.1392A>G
mutation in the ITGA2B gene. The prediction of variant pathogenicity has been done using bioinformatics tools such as Mutation taster PhD‑SNP and polyphen2 and were confirmed by Sanger sequencing

Conclusions: WES could be as a precise tool for identifying the pathologic variants in affected patient and heterozygous carriers among families. This highly successful technique will remain at the forefront of platelet and blood genomic research.


Blood platelets; congenital abnormalities; DNA; Fanconi anemia; sequence analysis

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