Myoferline gene mutation сan be associated with recurrent angioedema

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Abstract

Hereditary angioedema is a rare genetically determined disease characterized by the recurrent angioedema of various localizations with no response to systemic glucocorticosteroids, antihistamines.

In the majority of hereditary angioedema cases C1-inhibitor level or it’s functional activity is decreased due to a mutation in the SERPING1 gene. In recent years, the expansion of genetic diagnostic recourses significantly changed our understanding of the pathogenesis of hereditary angioedema without of C1-inhibitor deficiency with previously unknown mutations. Currently mutations in six different genes have been identified as causing hereditary angioedema: factor XII (F12), plasminogen (PLG), angiopoietin 1 (ANGPT1), Kininogen 1 (KNG1), Myoferlin (MYOF), and heparan sulfate (HS)-glucosamine 3-O-sulfotransferase 6 (HS3ST6). Moreover, the last 3 of them are referred to a separate phenotype ― intrinsic endothelial dysfunction.

In 2020 a series of clinical cases in patients with MYOF gene mutation in an Italian family were published. This type is exceptionally rare ― only 3 female relatives from the same family are described.

This article presents a review of the actual international literature and describes the first clinical case of a male patient with a mutation in the myoferlin gene confirmed by genetic testing.

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About the authors

Daria S. Fomina

City Clinical Hospital No. 52; First Sechenov Moscow State Medical University (Sechenov University); Astana Medical University

Author for correspondence.
Email: daria_fomina@mail.ru
ORCID iD: 0000-0002-5083-6637
SPIN-code: 3023-4538

MD, Cand. Sci. (Med.), Associate Professor

Россия, 3 Pekhotnaya street, 123182 Moscow; Moscow; Astana, Republic of Kazakhstan

Sofia A. Serdotetskova

City Clinical Hospital No. 52

Email: darklynx813@gmail.com
ORCID iD: 0000-0001-8472-1152
SPIN-code: 6644-6715

врач аллерголог-иммунолог

Россия, 3 Pekhotnaya street, 123182 Moscow

Elena N. Bobrikova

City Clinical Hospital No. 52

Email: elena.bobrikova.69@mail.ru
ORCID iD: 0000-0002-6534-5902
SPIN-code: 5806-7260

заведующая консультативно-диагностического отделения

Россия, 3 Pekhotnaya street, 123182 Moscow

Julia G. Alekseeva

City Clinical Hospital No. 52

Email: doctorajg5@gmail.com
ORCID iD: 0000-0002-4131-2436
SPIN-code: 5379-3655

врач аллерголог-иммунолог

Россия, 3 Pekhotnaya street, 123182 Moscow

Anna A. Roppelt

City Clinical Hospital No. 52; Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology

Email: roppelt_anna@mail.ru
ORCID iD: 0000-0001-5132-1267
SPIN-code: 7249-4423

MD, Cand. Sci. (Med.)

Россия, 3 Pekhotnaya street, 123182 Moscow; Moscow

Mariana A. Lysenko

City Clinical Hospital No. 52; The Russian National Research Medical University named after N.I. Pirogov

Email: gkb52@zdrav.mos.ru
ORCID iD: 0000-0001-6010-7975
SPIN-code: 3887-6250

MD, Dr. Sci. (Med.), Professor

Россия, 3 Pekhotnaya street, 123182 Moscow; Moscow

References

  1. Ghazi A, Grant JA. Hereditary angioedema: Epidemiology, management, and role of icatibant. Biologics. 2013;(7):103–113. doi: 10.2147/BTT.S27566
  2. Zuraw BL. Clinical practice. Hereditary angioedema. New Eng J Med. 2008;359(10):1027–1036. doi: 10.1056/NEJMcp0803977
  3. Nzeako UC, Frigas E, Tremaine WJ. Hereditary angioedema: A broad review for clinicians. Arch Int Med. 2001;161(20):2417–2429. doi: 10.1001/archinte.161.20.2417
  4. Jalaj S, Scolapio JS. Gastrointestinal manifestations, diagnosis, and management of hereditary angioedema. J Clin Gastroenterol. 2013;47(10):817–823. doi: 10.1097/MCG.0b013e31829e7edf
  5. Xu YY, Zhi YX, Liu RL, et al. Upper airway edema in 43 patients with hereditary angioedema. Ann Allergy Asthma Immunol. 2014;112(6):539–544.e1. doi: 10.1016/j.anai.2014.03.003
  6. Zanichelli A, Longhurst HJ, Maurer M, et al. Misdiagnosis trends in patients with hereditary angioedema from the real-world clinical setting. Ann Allergy Asthma Immunol. 2016;117(4):394–398. doi: 10.1016/j.anai.2016.08.014
  7. Bork K, Barnstedt SE, Koch P, Traupe H. Hereditary angioedema with normal C1-inhibitor activity in women. Lancet. 2000;356(9225):213–217. doi: 10.1016/S0140-6736(00)02483-1
  8. Binkley KE, Davis A. Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. J Allergy Clin Immunol. 2000;106(3):546–550. doi: 10.1067/mai.2000.108106
  9. Dewald G, Bork K. Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun. 2006;343(4): 1286–1289. doi: 10.1016/j.bbrc.2006.03.092
  10. Bork K, Wulff K, Steinmüller-Magin L, et al. Hereditary angioedema with a mutation in the plasminogen gene. Allergy. 2018;73(2):442–450. doi: 10.1111/all.13270
  11. Dewald G. A missense mutation in the plasminogen gene, within the plasminogen kringle 3 domain, in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun. 2018;498(1): 193–198. doi: 10.1016/j.bbrc.2017.12.060
  12. Bafunno V, Firinu D, D’Apolito M, et al. Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema. J Allergy Clin Immunol. 2018;141(3): 1009–1017. doi: 10.1016/j.jaci.2017.05.020
  13. D’Apolito M, Santacroce R, Colia AL, et al. Angiopoietin-1 haploinsufficiency affects the endothelial barrier and causes hereditary angioedema. Clin Exp Allergy. 2019;49(5):626–635. doi: 10.1111/cea.13349
  14. Bork K, Wulff K, Rossmann H, et al. Hereditary angioedema cosegregating with a novel kininogen 1 gene mutation changing the N-terminal cleavage site of bradykinin. Allergy. 2019;74(12): 2479–2481. doi: 10.1111/all.13869
  15. Bork K, Wulff K, Möhl BS, et al. Novel hereditary angioedema linked with a heparan sulfate 3-O-sulfotransferase 6 gene mutation. J Allergy Clin Immunol. 2021;148(4):1041–1048. doi: 10.1016/j.jaci.2021.01.011
  16. Ariano A, D’Apolito M, Bova M, et al. A myoferlin gain-of-function variant associates with a new type of hereditary angioedema. Allergy. 2020;75(11):2989–2992. doi: 10.1111/all.14454
  17. Bernatchez PN, Acevedo L, Fernandez-Hernando C, et al. Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function. J Biol Chem. 2007;282(42):30745–30753. doi: 10.1074/jbc.M704798200
  18. Yu C, Sharma A, Trane A, et al. Myoferlin gene silencing decreases Tie-2 expression in vitro and angiogenesis in vivo. Vascul Pharmacol. 2011;55(1-3):26–33. doi: 10.1016/j.vph.2011.04.001
  19. Oubaha M, Gratton JP. Phosphorylation of endothelial nitric oxide synthase by atypical PKC zeta contributes to angiopoietin-1-dependent inhibition of VEGF-induced endothelial permeability in vitro. Blood. 2009;114(15):3343–3351. doi: 10.1182/blood-2008-12-196584
  20. Bork K, Wulff K, Witzke G, Hardt J. Treatment for hereditary angioedema with normal C1-INH and specific mutations in the F12 gene (HAE-FXII). Allergy. 2017;72(2):320–324. doi: 10.1111/all.13076
  21. Veronez CL, Moreno AS, Constantino-Silva RN, et al. Hereditary angioedema with normal C1 inhibitor and F12 mutations in 42 Brazilian families. J Allergy Clin Immunol Pract. 2018;6(4): 1209–1216.e8. doi: 10.1016/j.jaip.2017.09.025
  22. Bova M, Suffritti C, Bafunno V, et al. Impaired control of the contact system in hereditary angioedema with normal C1-inhibitor. Allergy. 2020;75(6):1394–1403. doi: 10.1111/all.14160
  23. Recke A, Massalme EG, Jappe U, et al. Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema. Clin Transl Allergy. 2019;(9):9. doi: 10.1186/s13601-019-0247-x
  24. Bork K, Wulff K, Hardt J, et al. Hereditary angioedema caused by missense mutations in the factor XII gene: Clinical features, trigger factors, and therapy. J Allergy Clin Immunol. 2009;124(1):129–134. doi: 10.1016/j.jaci.2009.03.038
  25. Marcos C, Lera LA, Varela S, et al. Clinical, biochemical, and genetic characterization of type III hereditary angioedema in 13 Northwest Spanish families. Ann Allergy Asthma Immunol. 2012;109(3):195–200.e2. doi: 10.1016/j.anai.2012.05.022
  26. Piñero-Saavedra M, González-Quevedo T, Saenz de San Pedro B, et al. Hereditary angioedema with F12 mutation: Clinical features and enzyme polymorphisms in 9 Southwestern Spanish families. Ann Allergy Asthma Immunol. 2016;117(5):520–526. doi: 10.1016/j.anai.2016.09.001
  27. Bouillet L, Boccon-Gibod I, Gompel A, et al. Hereditary angioedema with normal C1 inhibitor: Clinical characteristics and treatment response with plasma-derived human C1 inhibitor concentrate (Berinert) in a French cohort. Eur J Dermatol. 2017;27(2):155–159. doi: 10.1684/ejd.2016.2948
  28. Bouillet L, Boccon-Gibod I, Launay D, et al. Hereditary angioedema with normal C1 inhibitor in a French cohort: Clinical characteristics and response to treatment with icatibant. Immun Inflamm Dis. 2017;5(1):29–36. doi: 10.1002/iid3.137
  29. Wintenberger C, Boccon-Gibod I, Launay D, et al. Tranexamic acid as maintenance treatment for non-histaminergic angioedema: Analysis of efficacy and safety in 37 patients. Clin Exp Immunol. 2014;178(1):112–117. doi: 10.1111/cei.12379
  30. McKibbin L, Barber C, Kalicinsky C, Warrington R. Review of the Manitoba cohort of patients with hereditary angioedema with normal C1 inhibitor. Allergy Asthma Clin Immunol. 2019;(15):66. doi: 10.1186/s13223-019-0381-y

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2. Fig. 1. Patient Zh., 35 years old, diagnosis of hereditary angioedema: complaints about the occurrence of angioedema in the oral mucosa (а, b), tongue (c), upper extremities (d). (Photos from patient’s private archive).

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3. Fig. 2. The same patient: harbinger of angioedema in the form of hyperemia of the skin (а, b) on the eve of the attack. (Photos from patient’s private archive).

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4. Fig. 3. Genealogical tree of the patient's family. WT — normal allele of the gene MYOF, p.Ser742Leu — allele of the gene MYOF with the mutation, ?/? — genetic assay has not been performed.

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