التفاصيل البيبلوغرافية
| العنوان: |
Molecular and clinical profile of congenital fibrinogen disorders in Iran, identification of two novel mutations. |
| المؤلفون: |
Tavasoli, Behnaz, Safa, Majid, Dorgalaleh, Akbar, Ghasemi, Jahan B., Rezaei Makhouri, Farahnaz, Rezvani, Mohammad R., Ahmadi, Abbas, Tabibian, Shadi, Jazebi, Mohammad, Baghaipour, Mohammad R., Zaker, Farhad |
| المصدر: |
International Journal of Laboratory Hematology; Oct2020, Vol. 42 Issue 5, p619-627, 9p |
| مصطلحات موضوعية: |
BLOOD coagulation disorders, MEDICAL records, GENETIC mutation, MOLECULAR pathology, PROTEINS, GENOMICS |
| مصطلحات جغرافية: |
IRAN |
| مستخلص: |
Introduction: Congenital fibrinogen disorders (CFDs) comprise the quantitative and qualitative fibrinogen molecule abnormalities that are caused by fibrinogen gene mutations. The objective of this cohort research was to study the molecular and clinical profiles of patients with CFDs. Materials and methods: Genomic DNA Sanger sequencing of 14 Iranian patients was performed to determine CFDs‐causing mutations. The disorders were diagnosed by routine and specific (fibrinogen antigen and functional assay) coagulation tests, and clinical data were obtained from medical records. Molecular dynamics (MD) simulations were performed to investigate the effect of missense mutation on the protein structure. Results: Thirteen out of 14 patients had afibrinogenemia while the remaining patient had dysfibrinogenemia. Umbilical cord bleeding was the most common clinical presentation (n: 9, ~70%) which led to the diagnosis of afibrinogenemia, while menorrhagia led to the diagnosis of dysfibrinogenemia. Six homozygous mutations were identified in afibrinogenemia: three previously described variants in FGA (p.Trp52Ter, p.Ser312AlafsTer109 and p.Gly316GlufsTer105), one in FBG (p.Gly430Asp), and two novel mutations in FGB (p.Gly430Arg) and FGG (p.His366ThrfsTer40), while the FGA (p.Arg38Thr) heterozygous mutation was identified in dysfibrinogenemia. MD simulation indicated that the FGA p. Arg38Thr mutation probably interferes with polymerization of fibrin monomers. Conclusions: In Iran, with its high rate of consanguinity, autosomal recessive afibrinogenemia with severe clinical presentations is relatively common due to heterogeneous molecular defects. [ABSTRACT FROM AUTHOR] |
|
Copyright of International Journal of Laboratory Hematology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) |
| قاعدة البيانات: |
Complementary Index |
