@article{article_1009115, title={Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE)}, journal={Marmara Medical Journal}, volume={34}, pages={274–278}, year={2021}, DOI={10.5472/marumj.1009115}, author={Kaymakcalan, Hande and Alp, Hande and Caglayan, Ahmet Okay and Gulbahar, Okan and Gokmen, Emine Nihal and Nıkerel, Emrah}, keywords={Hereditary angioedema of unknown cause ( U-HAE), Whole exome sequencing (WES ), Genetic}, abstract={Objective: Hereditary angioedema ( HAE) with normal C1 inhibitor (HAE-nC1-INH), is a genetically complex, rare disease and <br />mutations in <i>F12, ANGPT1, PLG, MYOF </i> genes are found in some families with HAE-nC1-INH. However, often a specific mutation <br />cannot be identified and this type is called as hereditary angioedema of unknown cause (U-HAE). Our aim was to identify putative <br />causative genetic alterations and/or pathways by whole exome sequencing in patients with U-HAE. <br />Patients and Methods: Nine patients from 8 families between the ages of 3 to 63 years with U-HAE and 6 controls were enrolled for <br />the study and whole exome sequencing were performed. <br />Results: No significant difference was found between the case and control group for the <i>a </i> <i>priori </i> suspected set of genes. Variants in the <br />genes; <i>RAMP2, IL6, GP1BA, C1QBP </i> were significantly different between U-HAE and control group. Downstream functional analysis <br />found that blood coagulation pathways were enriched in these genes. <br />Conclusion: Proteins that are not involved in contact pathways may also play a role in U-HAE. These variants need to be replicated in <br />larger cohorts and studied at the functional level to verify our findings.}, number={3}, publisher={Marmara University}