Myoferline gene mutation сan be associated with recurrent angioedema
Fomina D.S. Serdotetskova S.A. Bobrikova E.N. Alekseeva J.G. Roppelt A.A. Lysenko M.A.
2023Pharmarus Print Media
Russian Journal of Allergy
2023#20Issue 2229 - 237 pp.
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.
genetics , HAE , hereditary angioedema , myoferlin
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City Clinical Hospital No. 52, Moscow, Russian Federation
First Sechenov, Moscow State Medical University (Sechenov University), Moscow, Russian Federation
Astana Medical University, Astana, Kazakhstan
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation
The Russian National Research Medical University named after N.I. Pirogov, Moscow, Russian Federation
City Clinical Hospital No. 52
First Sechenov
Astana Medical University
Dmitry Rogachev National Medical Research Center of Pediatric Hematology
The Russian National Research Medical University named after N.I. Pirogov
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