Overview of SERPING1 Variations Identified in Hungarian Patients With Hereditary Angioedema.

Edina Szabó,Dorottya Csuka,Noémi Andrási,Lilian Varga,Henriette Farkas,Ágnes Szilágyi

Frontiers in allergy（2022）

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摘要

Sequencing and copy number determination of exons uncover most pathogenic variants in C1-INH-HAE patients, and further methods are worth to be applied in cases with unrevealed genetic background. Since knowledge of the genetic background may support the establishment of the correct and early diagnosis of C1-INH-HAE, identification of causative mutations and reporting data supporting the interpretation on the pathogenicity of these variants is of utmost importance.

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关键词

C1-INH-HAE,C1-inhibitor,MLPA,SERPING1,hereditary angioedema,long-range PCR,mutation,sequencing

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