Genetic and clinical characteristics of a group of patients with hereditary angioedema type 1 and 2
| Autor: | Е.V. Raikina, A.Y. Shcherbina, N.B. Kuzmenko, A.L. Laberko, M.A. Kurnikova, E.A. Viktorova, A.V. Pavlova |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
medicine.medical_specialty
Mutation business.industry Immunology Hematology Disease Gene mutation medicine.disease medicine.disease_cause Gastroenterology Oncology Molecular genetics Internal medicine Pediatrics Perinatology and Child Health Hereditary angioedema Genotype medicine Immunology and Allergy Missense mutation Multiplex ligation-dependent probe amplification business |
| Zdroj: | Voprosy gematologii/onkologii i immunopatologii v pediatrii. 16:35-42 |
| ISSN: | 2414-9314 1726-1708 |
| DOI: | 10.24287/1726-1708-2017-16-4-35-42 |
| Popis: | Hereditary angioedema (HAE) is a rare disease with autosomal dominant inheritance predominantly caused by decrease of C1 inhibitor level and/or function as a result of SERPING1 (C1NH) gene mutations. HAE patients develop edema of variable severity and localization, often life-threatening. The data on correlation of SERPING1 defects and HAE clinical course is conflicting. Aim: To study the variability of genetic defects in HAE, their correlation with the severity of disease symptoms. The study group included 69 HAE patients from 30 families, as well as seven symptoms-free mutation carriers (all children). Mutations were assayed via direct sequencing and MLPA method. The patients were divided in two groups depending on the type of the mutation: group one included patients with potentially deleterious mutations (including the functional center R466C), the second – with less deleterious (missense) mutations, excluding R466C. We identified 27 different mutations, 11 have not been described previously. Exon 7 contained the most of them. We found a large proportion (5 out of 27) of large deletions. When disease severity was compared in two groups of patients we found it to be higher in the first group (Ме – 7 in the first group, Ме – 5 in the second, р = 0.03). Though clinical and laboratory data is enough to make the HAE diagnosis, molecular genetic testing is important for patients with HAE type 1 and 2, as well as for their symptoms-free relatives, as it allows an early diagnosis and prediction of the disease severity and a timely start of the targeted therapy. |
| Databáze: | OpenAIRE |
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