First Analysis of SERPING1 Gene in Patients with Hereditary Angioedema in Colombia Reveals Two Genotypic Variants in a Highly Symptomatic Individual

Original Article
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Abstract

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.

Keywords

Hereditary angioedema C1-inhibitor SERPING1 Complement C4 

Notes

Acknowledgements

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.

Funding Information

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.

Compliance with Ethical Standards

Conflict of Interest

The authors declare that they have no conflicts of interest

Supplementary material

10875_2018_491_MOESM1_ESM.jpg (406 kb)
Supplementary Fig 1 Pedigree analysis of Family A (Most of the patients included belong to this Family). Each patient with corroborated mutation is presented and properly codified as shown in Table 1. (JPEG 405 kb)

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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Programa de Medicina, Facultad de SaludUniversidad SurcolombianaNeivaColombia
  2. 2.Departamento de PediatríaHospital Universitario de NeivaNeivaColombia

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