Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209775%3A_____%2F24%3AN0000017" target="_blank" >RIV/00209775:_____/24:N0000017 - isvavai.cz</a>
Alternative codes found
RIV/00216224:14110/24:00136140
Result on the web
<a href="https://www.worldallergyorganizationjournal.org/action/showPdf?pii=S1939-4551%2824%2900016-4" target="_blank" >https://www.worldallergyorganizationjournal.org/action/showPdf?pii=S1939-4551%2824%2900016-4</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.waojou.2024.100885" target="_blank" >10.1016/j.waojou.2024.100885</a>
Alternative languages
Result language
angličtina
Original language name
Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene.
Original language description
ABSTRACT Background: Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterised by acute episodes of non-pruritic skin and submucosal swelling caused by increase in vascular permeability.Objective: Here we present the first complex analysis of the National HAE Slovakian cohort with the detection of 12 previously un-published genetic variants in SERPING1 gene.Methods: In patients diagnosed with hereditary angioedema caused by deficiency or dysfunction of C1 inhibitor (C1–INH-HAE) based on clinical manifestation and complement measurements, SERPING1 gene was tested by DNA sequencing (Sanger sequencing/massive parallel sequencing)and/or multiplex ligation-dependent probe amplification for detection of large rearrangements.Results: The Slovakian national cohort consisted of 132 living patients with confirmed HAE. We identified 51 index cases (32 families, 19 sporadic patients/112 adults, 20 children). One hundred seventeen patients had HAE caused by deficiency of C1 inhibitor (C1–INH-HAE-1) and 15 patients had HAE caused by dysfunction of C1 inhibitor (C1–INH-HAE-2). The prevalence of HAE in Slovakia has recently been calculated to 1:41 280 which is higher than average calculated prevalence. The estimated incidence was 1:1360 000. Molecular-genetic testing of the SERPING1 gene found 22 unique causal variants in 26 index cases, including 12 previously undescribed and unreported. Conclusion: The first complex report about epidemiology and genetics of the Slovakian national HAE cohort expands the knowledge of the C1–INH-HAE genetics. Twelve novel causal variants were present in the half of the index cases. A higher percentage of inframe variants comparing to other studies was observed. Heterozygous deletion of exon 3 found in a large C1–INH-HAE-1.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30101 - Human genetics
Result continuities
Project
—
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
World Allergy Organization Journal
ISSN
1939-4551
e-ISSN
1939-4551
Volume of the periodical
17
Issue of the periodical within the volume
3
Country of publishing house
GB - UNITED KINGDOM
Number of pages
13
Pages from-to
100885
UT code for WoS article
001217418800001
EID of the result in the Scopus database
2-s2.0-85186688721