一名家族性地中海热（FMF）患者的独特复合变异谱：三重纯合子E148Q-P369S-R408Q——“病例报告”
A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report".
作者信息
Abi Chakra Nour, Yazbeck Nadine, Fattah Mohammad Omar, Hanna-Wakim Rima
机构信息
American University of Beirut, Beirut, Lebanon.
Department of Pediatrics and Adolescent Medicine, American University of Beirut, Beirut, Lebanon.
出版信息
Appl Clin Genet. 2025 Jul 29;18:147-152. doi: 10.2147/TACG.S524353. eCollection 2025.
Abstract
Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder resulting in recurrent fever, polyserositis, and arthralgias. It is caused by mutations in the () gene. We report a Lebanese pediatric patient with typical FMF symptoms and unique triple homozygous variations E148Q-P369S-R408Q in the gene. This is the second-ever reported case with this specific triple homozygous variation.
摘要
家族性地中海热（FMF）是一种遗传性自身炎症性疾病，可导致反复发热、多浆膜炎和关节痛。它由（）基因的突变引起。我们报告了一名黎巴嫩儿科患者，具有典型的FMF症状，且在该基因中存在独特的三重纯合变异E148Q-P369S-R408Q。这是第二例报告的具有这种特定三重纯合变异的病例。
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本文引用的文献
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