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

Negahdari, Samira; Zamani, Mina; Seifi, Tahereh; Sedighzadeh, Sahar; Mazaheri, Neda; Zeighami, Jawaher; Sedaghat, Alireza; Saberi, Alihossein; Hamid, Mohammad; Keikhaei, Bijan; Radpour, Ramin; Shariati, Gholamreza; Galehdari, Hamid (2020). Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing. International journal of preventive medicine, 11(117), p. 117. 10.4103/ijpvm.IJPVM_462_19

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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.

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5 Citations in Web of Science ®
6 Citations in Scopus

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