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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Medical Oncology
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Tumor-Immunologie
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Tumor-Immunologie

UniBE Contributor:

Radpour, Ramin

Subjects:

600 Technology > 610 Medicine & health

ISSN:

2008-7802

Language:

English

Submitter:

Rebeka Gerber

Date Deposited:

30 Dec 2020 12:08

Last Modified:

03 Jan 2021 02:53

Publisher DOI:

10.4103/ijpvm.IJPVM_462_19

PubMed ID:

33088445

Uncontrolled Keywords:

Blood platelets DNA Fanconi anemia congenital abnormalities sequence analysis

BORIS DOI:

10.48350/149324

URI:

https://boris.unibe.ch/id/eprint/149324

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