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ORIGINAL ARTICLE
Year : 2020  |  Volume : 11  |  Issue : 1  |  Page : 117

Identification of three novel mutations in the FANCA, FANCC, and ,ITGA2B genes by whole exome sequencing


1 Narges Genetics Diagnostic Laboratory, Ahvaz, Iran
2 Narges Genetics Diagnostic Laboratory; Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran
3 Narges Genetics Diagnostic Laboratory; Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur Universityof medical Sciences, Ahvaz, Iran
4 Narges Genetics Diagnostic Laboratory; Department of Genetics, Ahvaz Jundishapur University of medical Sciences, Ahvaz, Iran
5 Narges Genetics Diagnostic Laboratory, Ahvaz; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran
6 Health Research Institute, Research Centre of Thalassemia and Hemoglobinopathies, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
7 Tumor Immunology, Department for BioMedical Research (DBMR), University of Bern, Bern; Department of Medical Oncology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland

Correspondence Address:
Gholamreza Shariati
Narges Genetics Diagnostic Laboratory, Ahvaz, Iran; Department of Genetics, Ahvaz Jundishapur University of medical Sciences, Ahvaz
Iran
Hamid Galehdari
Health Research Institute, Research Centre of Thalassemia and Hemoglobinopathies, Ahvaz Jundishapur University of Medical Sciences, Ahvaz
Iran
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Source of Support: None, Conflict of Interest: None


DOI: 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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