First Analysis of SERPING1 Gene in Patients with Hereditary Angioedema in Colombia Reveals Two Genotypic Variants in a Highly Symptomatic Individual
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Hereditary angioedema (HAE) is a heterogeneous genetic disease caused by a deficit in C1 inhibitor (C1-INH) and clinically characterized by sudden events of edema, swelling, and pruritus. Here, we describe the first SERPING1 genotyping in 22 subjects from 4 non-related families, all from southern Colombia. The previously reported heterozygous gene mutations, c.1081C>T (p.Gln361*), c.1396C>G (p.Arg466Gly), c.1029+84G>A, or c.106_107del (p.Ser36Phefs*21), were found in 12 patients. Of note, a single patient clinically characterized as severe HAE type 2 expressed mutations in exon 8 and intron 6, whereas all the others have type 1 HAE and expressed one pathogenic variant. One of the subjects, a 5-year-old girl was discovered to have a pathogenic variant, and she is still asymptomatic. This is the first report focused on HAE genetic analysis in a Colombian population.
KeywordsHereditary angioedema C1-inhibitor SERPING1 Complement C4
We thank all the families, parents, and children who were involved in this study. We also thank Federico Perdomo-Celis (current address: Universidad de Antioquia, Colombia) and Henry Javier Gutierrez-Achury (University of Cambridge, UK) for helping with the registration of the clinical information, and critically reading of the manuscript, respectively.
This study was funded by Shire IIR No. Col00939 and the Universidad Surcolombiana—Neiva. Shire was not involved in the findings reported here in any way.
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Conflict of Interest
The authors declare that they have no conflicts of interest
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