The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.

ABSTRACT:

Background

Hereditary angioedema due to the Thr328Lys variant in the coagulation factor XII (HAE-FXII) affects mainly women in whom the symptomatology is dependent on high estrogen levels. Clinical variability and incomplete penetrance are challenging features that hinder the diagnosis and management of HAE-FXII. The c.-4T>C Kozak polymorphism is the only common variation accounting for FXII plasma levels and was previously shown to modify the course of HAE due to C1-Inhibitor deficiency.

Objectives

To assess the influence of the c.-4T>C polymorphism on disease expression in 39 Spanish HAE-FXII index patients.

Methods

The c.-4T>C polymorphism was sequenced by the standard Sanger method, and HAE severity was calculated according to the score by Cumming et al. (2003) Th

SUBMITTER: Corvillo F 

PROVIDER: S-EPMC7549737 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature