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

Russian Federation, 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

Russian Federation, 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

Russian Federation, 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

Russian Federation, 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.)

Russian Federation, 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

Russian Federation, 3 Pekhotnaya street, 123182 Moscow; Moscow

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Supplementary files

Supplementary Files
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1. 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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2. 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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3. 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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