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Factor XI deficiency in Southern Iran: identification of a novel missense mutation
Mehran Karimi1, Hamta Jafari, Saba Lahsaeizadeh
1Haemostasis & Thrombosis Unit, Hematology Research Center, Shiraz University of Medical Science, Shiraz, Iran. karimim@sums.ac.ir
Abstract:
Factor XI (FXI)-deficiency is a rare coagulation disorder inherited as an autosomal recessive trait, which is most common in Ashkenazi Jews, but also found in other groups like Moslems. We have reviewed for the first time cases of FXI deficiency in southern Iran in order to analyze their mutations related to factor XI, the main clinical and biological features, levels of circulating factor XI, and bleeding history. All 15 exons and exon-intron boundaries of F11 were polymerase chain reaction amplified using sets of primers designed on the basis of the known genomic sequence of the gene. Among bleeding disorder cases, five were FXI-deficient. FXI clotting activity ranged 0.39-16%. All were severely deficient. In all analyzed patients, functional level of FXI was markedly reduced, confirming the diagnosis of quantitative FXI deficiency. Sequencing of F11 identified three mutations: (1) a highly prevalent type II nonsense mutation (Glu117stop) in a homozygous patient, (2) a previously reported missense (Glu547Lys), and (3) novel missense (Gly372Ala) mutation. No causative mutation was found in the sequenced regions of other patients. One novel mutation and two previously described mutations were identified in patients living in southern Iran. No recurrent mutation was found, perhaps because there is a more intense population mixing in southern Iran. Screening a higher number of FXI-deficient patients will also be necessary to reveal the existence of a founder effect for these mutations in the Iranian population.
Insights
Factor XI (FXI) deficiency, a rare bleeding disorder, was studied in southern Iran. Researchers identified novel and known mutations in the F11 gene, contributing to a better understanding of FXI deficiency in this population.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Factor XI (FXI) deficiency is a rare autosomal recessive coagulation disorder.
- It is most prevalent in Ashkenazi Jews but also occurs in other populations, including those in Iran.
Purpose of the Study:
- To analyze mutations in the F11 gene associated with Factor XI deficiency.
- To investigate clinical and biological features, FXI levels, and bleeding history in southern Iranian patients.
- To identify novel and known mutations within the Iranian population.
Main Methods:
- Polymerase chain reaction (PCR) amplification of all 15 exons and exon-intron boundaries of the F11 gene.
- Sequencing of the F11 gene to identify mutations.
- Analysis of clinical data, including bleeding history and FXI clotting activity.
Main Results:
- Five FXI-deficient patients were identified, with FXI clotting activity ranging from 0.39% to 16%.
- Three mutations were identified: a homozygous type II nonsense mutation (Glu117stop), a previously reported missense mutation (Glu547Lys), and a novel missense mutation (Gly372Ala).
- One novel and two previously described mutations were found in southern Iranian patients, with no recurrent mutations observed.
Conclusions:
- The study identified novel and known F11 gene mutations in southern Iranian patients with Factor XI deficiency.
- The findings highlight the genetic diversity of FXI deficiency in Iran, possibly due to population mixing.
- Further screening of FXI-deficient patients is needed to explore potential founder effects.
