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

摘要

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.