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"

Edina Poletto; Ursula Matte; Guilherme Baldo

doi:10.1186/s12881-018-0697-3

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"

BMC Med Genet. 2018 Oct 4;19(1):180. doi: 10.1186/s12881-018-0697-3.

Authors

Edina Poletto^{1

2}, Ursula Matte^{3

4}, Guilherme Baldo^{3

4}

Affiliations

¹ Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. [email protected].
² Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-903, Brazil. [email protected].
³ Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
⁴ Gene Therapy Center, Hospital de Clínicas de Porto Alegre, Ramiro Barcelos, 2350, Porto Alegre, RS, 90035-903, Brazil.

Abstract

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.

Keywords: 704ins5; C.613_617dupTGCTC; IDUA.

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

China
Humans
Iduronidase / genetics*
Japan
Mucopolysaccharidosis I*
Mutation

Substances

Iduronidase