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Analysis of cerebral infarction caused by dysplasminogenemia in three pedigrees
Xuanyu Chen1, Ming Zou1, Chunxing Lu1
1Department of Neurology, Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
Insights
Dysplasminogenemia, a rare genetic disorder affecting plasminogen (PLG) function, was linked to cerebral infarction in three young patients. A specific PLG gene mutation was identified as the cause of reduced PLG activity and increased clotting risk.
Area of Science:
- Genetics
- Hematology
- Neurology
Background:
- Dysplasminogenemia is a rare inherited disorder stemming from plasminogen (PLG) gene mutations.
- This condition leads to hypercoagulability and an increased risk of thrombotic events.
Purpose of the Study:
- To investigate the genetic basis of dysplasminogenemia in three young patients presenting with cerebral infarction (CI).
- To identify the specific plasminogen gene mutation responsible for reduced plasminogen activity and its association with CI.
Main Methods:
- Coagulation indices were measured using the STAGO STA-R-MAX analyzer.
- Plasminogen activity (PLG:A) was assessed via a chromogenic substrate method.
- Polymerase chain reaction (PCR) and reverse sequencing were employed to analyze the PLG gene, including all nineteen exons and flanking regions.
Main Results:
- Reduced PLG activity (approximately 50% of normal) was observed in the three probands and their affected family members.
- A heterozygous c.1858G>A missense mutation in exon 15 of the PLG gene was identified in all affected individuals.
- This mutation corresponds to a p.Ala620Thr substitution in the plasminogen protein.
Conclusions:
- The identified p.Ala620Thr missense mutation in the PLG gene is responsible for the reduced PLG activity observed.
- The heterozygous mutation likely impairs normal fibrinolytic activity, contributing to the incidence of cerebral infarction in these young patients.
Abstract:
Background and aims: Dysplasminogenemia is a rare heritable disease caused by plasminogen (PLG) gene defects resulting in hypercoagulability. In this report we describe three notable cases of cerebral infarction (CI) complicated with dysplasminogenemia in young patients. Methods: Coagulation indices were examined on STAGO STA-R-MAX analyzer. PLG: A was analyzed using a chromogenic substrate-based approach using a chromogenic substrate method. All nineteen exons of PLG gene and their 5'and 3'flanking regions were amplified by Polymerase chain reaction (PCR). Suspected mutation was confirmed by reverse sequencing. Results: PLG activity (PLG:A) in proband 1 and 3 of his tested family members, proband 2 and 2 of his tested family members, and proband 3 and her father were all reduced to roughly 50% of normal levels. Sequencing led to the identification of a heterozygous c.1858G>A missense mutation in exon 15 of the PLG gene in these three patients and affected family members. Conclusion: We conclude that the observed reduction in PLG:A was the result of this p.Ala620Thr missense mutation in the PLG gene. The CI incidence in these probands may be attributable to the inhibition of normal fibrinolytic activity as a consequence of this heterozygous mutation.
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