The FGG c.952G>A variant causes congenital dysfibrinogenemia characterized by recurrent cerebral infarction: a case
Anna Ying1, Yuanlin Zhou1, Chunyue Wang2
1Department of Neurology, Taizhou Hospital of Zhejiang Province Affiliated to Wenzhou Medical University, Linhai, China.
Frontiers in Neurology
|February 8, 2024
Summary
Congenital dysfibrinogenemia, a rare genetic disorder, can cause ischemic stroke. A patient with a specific FGG gene mutation experienced recurrent strokes, highlighting the need for genetic testing in unexplained cases.
Area of Science:
- Genetics
- Hematology
- Neurology
Background:
- Congenital dysfibrinogenemia (CD) is a rare inherited coagulation disorder caused by fibrinogen gene mutations.
- While typically causing bleeding, CD can also manifest as thrombotic events, including ischemic stroke.
Observation:
- A 52-year-old man presented with recurrent ischemic strokes despite standard treatment.
- Coagulation tests showed reduced functional fibrinogen but elevated protein levels.
- Genetic analysis revealed a rare heterozygous missense variation in the FGG gene (c.952G>A).
Findings:
- The identified FGG gene mutation (c.952G>A, rs267606810) was linked to ischemic stroke in the patient.
- Both the patient and his asymptomatic sister carried this mutation and exhibited altered fibrinogen levels (reduced function, increased antigenicity).
Implications:
- This case expands the known clinical spectrum of the FGG c.952G>A mutation.
- It emphasizes considering CD in patients with unexplained ischemic stroke, especially with a family history of bleeding or clotting disorders.
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