家族性地中海热（FMF）患者独特的复杂变异谱：三重纯合子E148Q-P369S-R408Q -“病例报告”

IF 2.6 Q2 GENETICS & HEREDITY

Application of Clinical Genetics Pub Date : 2025-07-29 eCollection Date: 2025-01-01 DOI:10.2147/TACG.S524353

Nour Abi Chakra, Nadine Yazbeck, Mohammad Omar Fattah, Rima Hanna-Wakim

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引用次数: 0

摘要

家族性地中海热（FMF）是一种遗传性自身炎症性疾病，导致反复发热、多浆液炎和关节痛。它是由MEFV（地中海热）基因突变引起的。我们报告了一名黎巴嫩儿童患者，其典型的FMF症状和MEFV基因中独特的三重纯合变异E148Q-P369S-R408Q。这是报道的第二例这种特殊的三重纯合变异。

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A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report".

Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder resulting in recurrent fever, polyserositis, and arthralgias. It is caused by mutations in the MEFV (Mediterranean Fever) gene. We report a Lebanese pediatric patient with typical FMF symptoms and unique triple homozygous variations E148Q-P369S-R408Q in the MEFV gene. This is the second-ever reported case with this specific triple homozygous variation.

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来源期刊

Application of Clinical Genetics Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

5.40

自引率

0.00%

发文量

审稿时长

16 weeks