Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE)

Kaymakçalan Çelebiler H., Alp H., Çağlayan A. O., Gülbahar O., Mete Gökmen E. N., Nikerel İ. E.

MARMARA MEDICAL JOURNAL, vol.34, no.3, pp.274-278, 2021 (ESCI, Scopus, TRDizin) identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 3
  • Publication Date: 2021
  • Doi Number: 10.5472/marumj.1009115
  • Journal Name: MARMARA MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.274-278
  • Keywords: Hereditary angioedema of unknown cause ( U-HAE), Whole exome sequencing (WES ), Genetic
  • Dokuz Eylül University Affiliated: Yes

Abstract

Objective: Hereditary angioedema ( HAE) with normal C1 inhibitor (HAE-nC1-INH), is a genetically complex, rare disease and mutations in F12, ANGPT1, PLG, MYOF genes are found in some families with HAE-nC1-INH. However, often a specific mutation cannot be identified and this type is called as hereditary angioedema of unknown cause (U-HAE). Our aim was to identify putative causative genetic alterations and/or pathways by whole exome sequencing in patients with U-HAE.