National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia.

"table 6 characteristics of the identified serping1 variants of hae type i and ii patients patient confirmed hae type identified variant in serping1 (reference gene nm_000062 2) dbsnp found in n index individuals (n total) pathogenicity reported before a patient characteristics age gender attacks per 12 months1 ii c 1396c > tp(arg466cys) rs28940870 1 pathogenic not reported in clinvar mentioned in 12 manuscripts63 female 2 2 i c 550g > a p(gly184arg) rs281875170 1 pathogenic clinvar id:79144 mentioned in 26 manuscripts53 female 48 3 i c 1195c > t p(pro399ser) 1 pathogenic not reported in clinvar (2122) 55 female 50 4 i c 1312del p(val438phefster12) 1(2) likely pathogenic novel variant 34 female 8 5 62 female 10 6 i c 1249 + 4a > g p?; 1 (2) likely pathogenic novel variant 35 female 60 7 58 female 48 8 i [grch38] chr11:g 57600729_57603011del 1 pathogenic novel variant 32 male 2 a if available clinvar id and references if reported in few manuscripts according to mastermind genomenon com data [access18 06 2021] our nationwide study revealed an overall point prevalence of 0 53 per 100000 inhabitants which is lower than estimated in the literature (1 in 50000 - 100000 people worldwide) or other european studies (e g 1 54/100000 in sweden; 1 09/100000 in spain; 1 41/100000 in denmark; 1 54/100000 in italy; 1 55/100000 in austria) [ - ]."

"Declarations Ethics approval and consent to participateThe study was approved by the Latvian Central Medical Ethics Committee (No. 01–29.1/2878, Approved on 03/06/2020) and conforms to the principles of the Declaration of Helsinki. Consent for publicationAll patients or their legal representatives have signed informed consent. Competing interestsHenriette Farkas received research grants from CSL Behring, Takeda and Pharming and served as an advisor for these companies and Kalvista, ONO Pharmaceutical, Biocryst, and Astria. Competing interests Henriette Farkas received research grants from CSL Behring, Takeda and Pharming and served as an advisor for these companies and Kalvista, ONO Pharmaceutical, Biocryst, and Astria."

"Funding Latvian Council of Science project lzp-2020/1-0269."