Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics
- 1Research Unit, Hospital Universitario Nuestra Señora de Candelaria, Universidad de La Laguna, Santa Cruz de Tenerife, Spain
- 2Allergy Unit, Hospital Universitario Nuestra Señora de Candelaria, Universidad de La Laguna, Santa Cruz de Tenerife, Spain
- 3Instituto Tecnológico y de Energías Renovables (ITER), Genomics Division, Santa Cruz de Tenerife, Spain
- 4CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain
- 5Instituto de Tecnologías Biomédicas (ITB), Universidad de La Laguna, Santa Cruz de Tenerife, Spain
A Corrigendum on
Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics
by Marcelino-Rodriguez, I., Callero, A., Mendoza-Alvarez, A., Perez-Rodriguez, E., Barrios-Recio, J., Garcia-Robaina, J. C., et al. (2019). Front. Genet. 10:900. doi: 10.3389/fgene.2019.00900
In the original article, there was a mistake in Table 1 as published. The study conducted by Veronez et al. (2018) did not focus on acquired forms of angioedema (AAE). In addition, the study published in 2017 by the same author, describes a rare mutation detected within F12 gene in a patient with angioedema induced by angiotensin-converting enzyme inhibitors. The reference (Veronez et al., 2018) has been modified to Veronez et al. (2017). Besides, one of the gene acronyms “BDKRB2” was not set in italics. This is has been corrected and shown in Table 1 below.
Also, we stated that in the study conducted by Dewald (2018) there is another rare variant affecting function detected within PLG gene. However, this is the same variant (p.Lys330Glu) described by Bork et al. (2018). This error was caused by the use of different nomenclature, where Bork et al., uses the correct nomenclature indicated by the Human Genome Variation Society guidelines. At the moment, only one PLG causal variant affecting function is reported in the scientific literature. A correction has been made to the third paragraph of Section: NGS to Fully Define HAE Genetics:
Another recent WES study in families with HAE-nC1-INH with unknown genetic causes identified the plasminogen gene (PLG) as a new causal gene (Bork et al., 2018). In this case, a p.Lys330Glu variant located in exon 9 was found in 14 German patients while it was absent from gnomAD. This variant predicted a change in the kringle 3 domain of plasminogen. The variant was found in all symptomatic patients and in nine out of 38 index patients from other independent families. In fact, two other studies identified the same variant in HAE cases from France and Japan (Belbézier et al., 2018; Yakushiji et al., 2018). Another study screened PLG for variants in eight unrelated index patients from Germany with HAE-nC1-INH with unknown genetic causes (Dewald, 2018). They also found the rare non-conservative missense variant in exon 9 (p.Lys330Glu) in three of the patients, using isoelectric focusing of plasma samples followed by an immunoblotting procedure, this study demonstrated that the presence of the p.Lys330Glu variant was associated with the presence of an aberrant plasminogen protein.
The authors apologize for this error and state that this does not change the scientific conclusions of the article in any way. The original article has been updated.
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Keywords: angioedema, inheritance, diagnosis, sequencing, precision medicine
Citation: Marcelino-Rodriguez I, Callero A, Mendoza-Alvarez A, Perez-Rodriguez E, Barrios-Recio J, Garcia-Robaina JC and Flores C (2020) Corrigendum: Bradykinin-Mediated Angioedema: An Update of the Genetic Causes and the Impact of Genomics. Front. Genet. 11:690. doi: 10.3389/fgene.2020.00690
Received: 30 April 2020; Accepted: 05 June 2020;
Published: 28 July 2020.
Edited and reviewed by: Anastasios E. Germenis, University of Thessaly, Greece
Copyright © 2020 Marcelino-Rodriguez, Callero, Mendoza-Alvarez, Perez-Rodriguez, Barrios-Recio, Garcia-Robaina and Flores. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
*Correspondence: Carlos Flores, cflores@ull.edu.es