Complex analysis of the national Hereditary angioedema cohort
in Slovakia - Identification of 12 novel variants in SERPING1
gene

J 2024

Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene

MARKOCSY, Adam; Katarina HRUBISKOVA; Martin HRUBISKO; Tomáš FREIBERGER; Hana GROMBIŘÍKOVÁ et al.

Základní údaje

Originální název

Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene

Autoři

Vydání

WORLD ALLERGY ORGANIZATION JOURNAL, AMSTERDAM, ELSEVIER, 2024, 1939-4551

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30102 Immunology

Stát vydavatele

Nizozemské království

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 4.300

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/24:00136140

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Genetic testing; Angioedemas; Hereditary/epidemiology; Hereditary/genetics; Slovakia; Complement C1 inhibitor protein

Štítky

14110114, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 5. 6. 2024 14:12, Mgr. Tereza Miškechová

Anotace

V originále

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 family probably causes the dysregulation of the splicing isoforms balance and leads to the decrease of full-length C1-INH level.

Citovat

MARKOCSY, Adam; Katarina HRUBISKOVA; Martin HRUBISKO; Tomáš FREIBERGER; Hana GROMBIŘÍKOVÁ; Lenka DOLESOVA; Ludmila Slivka VAVROVA; Regina Lohajova BEHULOVA; Martina ONDRUSOVA; Peter BANOVCIN; Karolina VORCAKOVA a Milos JESENAK. Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene. WORLD ALLERGY ORGANIZATION JOURNAL. AMSTERDAM: ELSEVIER, 2024, roč. 17, č. 3, s. 1-13. ISSN 1939-4551. Dostupné z: https://doi.org/10.1016/j.waojou.2024.100885.

@article{2407999,
   author = {Markocsy, Adam and Hrubiskova, Katarina and Hrubisko, Martin and Freiberger, Tomáš and Grombiříková, Hana and Dolesova, Lenka and Vavrova, Ludmila Slivka and Behulova, Regina Lohajova and Ondrusova, Martina and Banovcin, Peter and Vorcakova, Karolina and Jesenak, Milos},
   article_location = {AMSTERDAM},
   article_number = {3},
   doi = {https://doi.org/10.1016/j.waojou.2024.100885},
   keywords = {Genetic testing; Angioedemas; Hereditary/epidemiology; Hereditary/genetics; Slovakia; Complement C1 inhibitor protein},
   language = {eng},
   issn = {1939-4551},
   journal = {WORLD ALLERGY ORGANIZATION JOURNAL},
   title = {Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene},
   url = {https://www.sciencedirect.com/science/article/pii/S1939455124000164?via%3Dihub},
   volume = {17},
   year = {2024}
}

TY  - JOUR
ID  - 2407999
AU  - Markocsy, Adam - Hrubiskova, Katarina - Hrubisko, Martin - Freiberger, Tomáš - Grombiříková, Hana - Dolesova, Lenka - Vavrova, Ludmila Slivka - Behulova, Regina Lohajova - Ondrusova, Martina - Banovcin, Peter - Vorcakova, Karolina - Jesenak, Milos
PY  - 2024
TI  - Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene
JF  - WORLD ALLERGY ORGANIZATION JOURNAL
VL  - 17
IS  - 3
SP  - 1-13
EP  - 1-13
PB  - ELSEVIER
SN  - 19394551
KW  - Genetic testing
KW  - Angioedemas
KW  - Hereditary/epidemiology
KW  - Hereditary/genetics
KW  - Slovakia
KW  - Complement C1 inhibitor protein
UR  - https://www.sciencedirect.com/science/article/pii/S1939455124000164?via%3Dihub
N2  - 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 family probably causes the dysregulation of the splicing isoforms balance and leads to the decrease of full-length C1-INH level.
ER  -

MARKOCSY, Adam; Katarina HRUBISKOVA; Martin HRUBISKO; Tomáš FREIBERGER; Hana GROMBIŘÍKOVÁ; Lenka DOLESOVA; Ludmila Slivka VAVROVA; Regina Lohajova BEHULOVA; Martina ONDRUSOVA; Peter BANOVCIN; Karolina VORCAKOVA a Milos JESENAK. Complex analysis of the national Hereditary angioedema cohort in Slovakia - Identification of 12 novel variants in SERPING1 gene. \textit{WORLD ALLERGY ORGANIZATION JOURNAL}. AMSTERDAM: ELSEVIER, 2024, roč.~17, č.~3, s.~1-13. ISSN~1939-4551. Dostupné z: https://doi.org/10.1016/j.waojou.2024.100885.

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