• Tatielly Kruk, Herberto José Chong-Neto, Marina Mendonça Dias, Wagner Narciso Campos, Adriana Santos Moreno, Liya Regina Mikami, Lilian Pereira Ferrari, Luísa Karla de Paula Arruda, and Nelson Rosário Filho.
• . Programa de Pós-Graduação em Medicina Interna e Ciências da Saúde. Complexo Hospital de Clínicas,Universidade Federal do Paraná - UFPR, Curitiba, PR, Brasil.
• Rev Assoc Med Bras (1992). 2020 Apr 1; 66 (4): 502-506.

ObjectiveTo investigate the presence of the Angiopoietin 1 (ANGPT1) and Plasminogen (PLG) mutations in patients with Hereditary Angioedema (HAE) and normal C1 esterase inhibitor (C1-INH) levels, who do not harbor the F12 gene mutation.MethodsPatients clinically diagnosed with HAE but without C1-INH deficiency or dysfunction and F12 gene mutation were evaluated. DNA extraction, quantification, and dilution were performed at a concentration of 100 ng/µL, followed by a DNA amplification (PCR) for molecular evaluation of exon 2 of the ANGPT1 gene and exon 9 of the PLG gene for identification of mutations c.807G>T / p.A119S and c.988A>G / p.K330E, respectively. The PCR product was evaluated in 1% agarose gel electrophoresis. Sequencing was performed using the Sanger method. The electropherograms were analyzed using the FASTA® program.ResultsDNA samples from 15 women were sequenced. Their ages ranged from 10 to 60 years and the normal C1 esterase and C4 inhibitor serum levels ranged from 22 to 39 mg/dL and from 10 to 40 mg/dL, respectively. No mutations were detected in the analyzed exons of ANGPT1 and PLG. However, a single-nucleotide polymorphism (SNP) was detected in two homozygotic and five heterozygotic patients.ConclusionFurther studies are needed to evaluate these SNPs and scrutinize their potential for use as molecular markers of HAE and as novel therapeutic targets.

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