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, cilt.34, sa.3, ss.274-278, 2021 (ESCI) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 3
  • Basım Tarihi: 2021
  • Doi Numarası: 10.5472/marumj.1009115
  • Dergi Adı: MARMARA MEDICAL JOURNAL
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, CINAHL, EMBASE, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.274-278
  • Anahtar Kelimeler: Hereditary angioedema of unknown cause ( U-HAE), Whole exome sequencing (WES ), Genetic, READ ALIGNMENT
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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.