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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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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.

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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.

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Authors and Affiliations

  1. Programa de Medicina, Facultad de Salud, Universidad Surcolombiana, Calle 9 # 14-02, Neiva, Colombia

    Jairo A. Rodríguez & Carlos F. Narváez

  2. Departamento de Pediatría, Hospital Universitario de Neiva, Neiva, Colombia

    Jairo A. Rodríguez

Authors
  1. Jairo A. Rodríguez
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  2. Carlos F. Narváez
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Correspondence to Jairo A. Rodríguez or Carlos F. Narváez.

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The authors declare that they have no conflicts of interest

Electronic Supplementary Material

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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Rodríguez, J.A., Narváez, C.F. First Analysis of SERPING1 Gene in Patients with Hereditary Angioedema in Colombia Reveals Two Genotypic Variants in a Highly Symptomatic Individual. J Clin Immunol 38, 294–299 (2018). https://doi.org/10.1007/s10875-018-0491-1

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  • DOI: https://doi.org/10.1007/s10875-018-0491-1

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