Genetic Study of Hereditary Angioedema Type I and Type II (First Report from Iranian Patients: Describing Three New Mutations)

References

• Amrani N, Sachs MS, Jacobson A. 2006. Early nonsense: mRNA decay solves a translational problem. Nat Rev Mol Cell Biol. 7(6):415.
   PubMed Web of Science ®Google Scholar
• Beinrohr L, Harmat V, Dobó J, Lörincz Z, Gál P, Závodszky P. 2007. C1 inhibitor serpin domain structure reveals the likely mechanism of heparin potentiation and conformational disease. J Bio Chem. 282(29):21100–09.
   PubMed Web of Science ®Google Scholar
• Bissler JJ, Aulak KS, Donaldson VH, Rosen FS, Cicardi M, Harrison RA, Davis A. 1997. Molecular defects in hereditary angioneurotic edema. Proc Assoc Am Physicians. 109(2):164–73.
   PubMedGoogle Scholar
• Blanch A, Roche O, Urrutia I, Gamboa P, Fontán G, López-Trascasa M. 2006. First case of homozygous C1 inhibitor deficiency. J Allergy Clin Immunol. 118(6):1330–35.
   PubMed Web of Science ®Google Scholar
• Bock SC, Skriver K, Nielsen E, Thoegersen HC, Wiman B, Donaldson VH, Eddy RL, Marrinan J, Radziejewska E. 1986. Human C. hivin. 1 inhibitor: primary structure, cDNA cloning, and chromosomal localization. Biochemistry. 25(15):4292–301.
   PubMed Web of Science ®Google Scholar
• Bors A, Csuka D, Varga L, Farkas H, Tordai A, Füst G, Szilagyi A. 2013. Less severe clinical manifestations in patients with hereditary angioedema with missense C1INH gene mutations. J Aller Clin Immunol. 131(6):1708–1711. e1703.
   PubMed Web of Science ®Google Scholar
• Bygum A, Fagerberg CR, Ponard D, Monnier N, Lunardi J, Drouet C. 2011. Mutational spectrum and phenotypes in Danish families with hereditary angioedema because of C1 inhibitor deficiency. Allergy. 66(1):76–84.
   PubMed Web of Science ®Google Scholar
• Cagini N, Veronez CL, Constantino-Silva RN, Buzolin M, Martin RP, Grumach AS, Velloso LA, Mansour E, Pesquero JB. 2016. New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema. Biol Chem. 397(4):337–44.
   PubMed Web of Science ®Google Scholar
• Carter PE, Duponchel C, Tosi M, Fothergill JE. 1991. Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements. Europ J Biochem. 197(2):301–08.
   PubMedGoogle Scholar
• Colobran R, Lois S, de la Cruz X, Pujol-Borrell R, Hernández-González M, Guilarte M. 2014. Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema. Clin Immunol. 150(2):143–48.
   PubMed Web of Science ®Google Scholar
• Cumming S, Halsall D, Ewan P, Lomas D. 2003. The effect of sequence variations within the coding region of the C1 inhibitor gene on disease expression and protein function in families with hereditary angio-oedema. J Med Genet. 40(10):e114–e114.
   PubMed Web of Science ®Google Scholar
• Davis A. 1989. Structure and function of C1 inhibitor. Behring Inst Mitt. 84:142–50.
   Google Scholar
• Frangi D, Cicardi M, Sica A, Colotta F, Agostoni A, Davis A. 1991. Nonsense mutations affect C1 inhibitor messenger RNA levels in patients with type I hereditary angioneurotic edema. J Clin Invest. 88(3):755.
   PubMed Web of Science ®Google Scholar
• Göβwein T, Kocot A, Emmert G, Kreuz W, Martinez-Saguer I, Aygören-Pürsün E, Rusicke E, Bork K, Oldenburg J, Müller C. 2008. Mutational spectrum of the C1INH (SERPING1) gene in patients with hereditary angioedema. Cytogenet Genome Res. 121(3–4):181–88.
   PubMed Web of Science ®Google Scholar
• Johnsrud I, Kulseth MA, Rødningen OK, Landrø L, Helsing P, Nielsen EW, Heimdal K. 2015. A nationwide study of Norwegian patients with hereditary angioedema with C1 inhibitor deficiency identified six novel mutations in SERPING1. PloS One. 10(7):e0131637.
   PubMed Web of Science ®Google Scholar
• Kaplan AP, Joseph K. 2016. Complement, kinins, and hereditary angioedema: mechanisms of plasma instability when C1 inhibitor is absent. Clin Rev Allergy Immunol. 51(1–9):207–15.
   PubMedGoogle Scholar
• Kargarsharif F, Mehranmehr N, Zahedifard S, Fazlollahi MR, Ayazi M, Mohammadzadeh I, Nabavi M, Bemanian MH, Fayezi A, Movahedi M. 2015. Type I and type II hereditary angioedema: clinical and laboratory findings in Iranian patients. Arch Iran Med. 18(7):425.
   PubMed Web of Science ®Google Scholar
• Karim Y, Griffiths H, Deacock S. 2004. Normal complement C4 values do not exclude hereditary angioedema. J Clin Pathol. 57(2):213–14.
   PubMed Web of Science ®Google Scholar
• Kralovicova J, Vorechovsky I. 2009. SERPING1 rs2511988 and age-related macular degeneration. The Lancet. 373(9662):461–62.
   PubMed Web of Science ®Google Scholar
• Lopez-Lera A, Favier B, de la Cruz RM, Garrido S, Drouet C, Lopez-Trascasa M. 2010. A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation. J Allergy Clin Immunol. 126(6):1307–1310 e1303.
   PubMed Web of Science ®Google Scholar
• Lumry WR. 2013. Overview of epidemiology, pathophysiology, and disease progression in hereditary angioedema. Am J Manag Care. 19(7 Suppl):s103–110.
   PubMed Web of Science ®Google Scholar
• Maurer M, Magerl M, Ansotegui I, Aygören-Pürsün E, Betschel S, Bork K, Bowen T, Boysen HB, Farkas H, Grumach AS. 2018. The international WAO/EAACI guideline for the management of hereditary angioedema–the 2017 revision and update. World Allergy Organizat J. 11(1):5.
   Google Scholar
• Nabilou S, Mirsaeed-Ghazi B, Fazlollahi MR, Houshmand M, Ayazi M, Alizadeh Z, Poupak Z. 2017a. Genetic study of hereditary angioedema type II in two siblings in Iran. Europ Acad Allergy Clin Immunol, Helsinki, Finland. Jun 17-21;72:580–81.
   Google Scholar
• Nabilou S, Pak F, Alizadeh Z, Fazlollahi MR, Houshmand M, Movahedi M, Mohammadzadeh I, Nabavi M, Fayezi A, Mahdaviani SA. Feb 17 2017b. Genetic diagnosis of hereditary angioedema Type I in Iran (Introducing one new mutation). Int Cong Immunol, Asthma & Allergy, Tehran, Iran. 17:56–58.
   Google Scholar
• Nzeako UC, Frigas E, Tremaine WJ. 2001. Hereditary angioedema: a broad review for clinicians. Arch Intern Med. 161(20):2417–29.
   PubMedGoogle Scholar
• Parish LC. 2011. Hereditary angioedema: diagnosis and management–a perspective for the dermatologist. J Am Acad Dermatol. 65(4):843–50.
   PubMed Web of Science ®Google Scholar
• Ponard D, Gaboriaud C, Charignon D, Ghannam A, Wagenaar‐Bos IG, Roem D, López‐Lera A, López‐Trascasa M, Tosi M, Drouet C. 2020. SERPING1 mutation update: mutation spectrum and C1 inhibitor phenotypes. Hum Mutat. 41(1):38–57.
   PubMed Web of Science ®Google Scholar
• Skriver K, Radziejewska E, Silbermann JA, Donaldson VH, Bock S. 1989. CpG mutations in the reactive site of human C1 inhibitor. J Bio Chem. 264(6):3066–71.
   PubMed Web of Science ®Google Scholar
• Speletas M, Szilágyi Á, Csuka D, Koutsostathis N, Psarros F, Moldovan D, Magerl M, Kompoti M, Varga L, Maurer M, et al. 2015. F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema. Allergy. 70(12):1661–64.
   PubMed Web of Science ®Google Scholar
• Sugiyama E, Ozawa T, Taki H, Maruyama M, Yamashita N, Ohta M, Hirata M, Kobayashi M. 2001. Hereditary angioedema with a de novo mutation of exon 8 in the C1 inhibitor gene showing recurrent edema of the hands around the peripheral joints: importance for the differential diagnosis of joint swelling. Arthritis Rheum. 44(4):974–77.
   PubMedGoogle Scholar
• Tarzi M, Hickey A, Förster T, Mohammadi M, Longhurst H. 2007. An evaluation of tests used for the diagnosis and monitoring of C1 inhibitor deficiency: normal serum C4 does not exclude hereditary angio‐oedema. Clin Exp Immunol. 149(3):513–16.
   PubMed Web of Science ®Google Scholar
• Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M. 1996. Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. Am J Hum Genet. 59(2):308.
   PubMed Web of Science ®Google Scholar
• Verpy E, Couture-Tosi E, Eldering E, Lopez-Trascasa M, Späth P, Meo T, Tosi M. 1995. Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function. J Clin Invest. 95(1):350.
   PubMed Web of Science ®Google Scholar