Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”

In this comment, we highlight that the IDUA pathogenic variants 704ins5 and c.613_617dupTGCTC are the same, but have different names depending on the nomenclature guideline used. Therefore, the frequency of this variant is 17.6% of alleles in Korean patients. This commentary stresses the importance...

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Autores principales: Poletto, Edina, Matte, Ursula, Baldo, Guilherme
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6172781/
https://www.ncbi.nlm.nih.gov/pubmed/30286738
http://dx.doi.org/10.1186/s12881-018-0697-3
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author Poletto, Edina
Matte, Ursula
Baldo, Guilherme
author_facet Poletto, Edina
Matte, Ursula
Baldo, Guilherme
author_sort Poletto, Edina
collection PubMed
description In this comment, we highlight that the IDUA pathogenic variants 704ins5 and c.613_617dupTGCTC are the same, but have different names depending on the nomenclature guideline used. Therefore, the frequency of this variant is 17.6% of alleles in Korean patients. This commentary stresses the importance of proper variant annotation and the use of guidelines when describing or reviewing mutations.
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spelling pubmed-61727812018-10-15 Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I” Poletto, Edina Matte, Ursula Baldo, Guilherme BMC Med Genet Correspondence In this comment, we highlight that the IDUA pathogenic variants 704ins5 and c.613_617dupTGCTC are the same, but have different names depending on the nomenclature guideline used. Therefore, the frequency of this variant is 17.6% of alleles in Korean patients. This commentary stresses the importance of proper variant annotation and the use of guidelines when describing or reviewing mutations. BioMed Central 2018-10-04 /pmc/articles/PMC6172781/ /pubmed/30286738 http://dx.doi.org/10.1186/s12881-018-0697-3 Text en © The Author(s). 2018 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Correspondence
Poletto, Edina
Matte, Ursula
Baldo, Guilherme
Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”
title Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”
title_full Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”
title_fullStr Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”
title_full_unstemmed Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”
title_short Comment on “report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I”
title_sort comment on “report of 5 novel mutations of the α-l-iduronidase gene and comparison of korean mutations in relation with those of japan or china in patients with mucopolysaccharidosis i”
topic Correspondence
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6172781/
https://www.ncbi.nlm.nih.gov/pubmed/30286738
http://dx.doi.org/10.1186/s12881-018-0697-3
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