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Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing
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 2015-201...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7554563/ https://www.ncbi.nlm.nih.gov/pubmed/33088445 http://dx.doi.org/10.4103/ijpvm.IJPVM_462_19 |
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author | 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 |
author_facet | 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 |
author_sort | Negahdari, Samira |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-7554563 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-75545632020-10-20 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 Int J Prev Med Original Article 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. Wolters Kluwer - Medknow 2020-08-06 /pmc/articles/PMC7554563/ /pubmed/33088445 http://dx.doi.org/10.4103/ijpvm.IJPVM_462_19 Text en Copyright: © 2020 International Journal of Preventive Medicine http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Original Article 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 Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing |
title | Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing |
title_full | Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing |
title_fullStr | Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing |
title_full_unstemmed | Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing |
title_short | Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing |
title_sort | identification of three novel mutations in the fanca, fancc, and itga2b genes by whole exome sequencing |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7554563/ https://www.ncbi.nlm.nih.gov/pubmed/33088445 http://dx.doi.org/10.4103/ijpvm.IJPVM_462_19 |
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