How to Cite this Article: Park H-D, Ko A-R, Ki C-S, Lee S-Y, Kim J-W, Cho SY, Kim SH, Park SW, Sohn YB, Jin D-K. 2013. Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA. Am J Med Genet Part A 161A: 509–517.
Article first published online: 8 FEB 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 3, pages 509–517, March 2013
How to Cite
Park, H.-D., Ko, A.-R., Ki, C.-S., Lee, S.-Y., Kim, J.-W., Cho, S. Y., Kim, S. H., Park, S. W., Sohn, Y. B. and Jin, D.-K. (2013), Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA. Am. J. Med. Genet., 161: 509–517. doi: 10.1002/ajmg.a.35298
Hyung-Doo Park and Ah-Ra Ko contributed equally to this work.
- Issue published online: 21 FEB 2013
- Article first published online: 8 FEB 2013
- Manuscript Accepted: 30 DEC 2011
- Manuscript Received: 25 NOV 2011
- Ministry for Health, Welfare and Family Affairs, Republic of Korea. Grant Number: A080588
- Samsung Biomedical Research Institute. Grant Number: SBRI C-A6-427-3
- mucopolysaccharidosis type IVA;
- novel mutation
Mucopolysaccharidosis IVA (MPS IVA; OMIM #253000) is caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), a lysosomal enzyme involved in the catabolism of keratan and chondroitin sulfate. In this study, we examined biochemical and genetic data from 6 Korean patients presenting with classic MPS IVA by measuring GALNS activity in peripheral blood leukocytes and skin fibroblasts. We initially identified Korean patients with MPS IVA by clinical, biochemical, and genetic analyses. We performed PCR-direct sequencing to identify molecular defects of the GALNS gene in patients and assessed the mutational statuses of family members as well as 50 healthy unrelated subjects. In silico analyses were performed to check for novel mutations. The mean age of the six female patients was 8.0 ± 5.2 years (range: 2–17 years), and were all found to have severe reductions of GALNS enzyme. A total of 12 mutant alleles were identified, corresponding to 7 different mutations. Five novel mutations were c.218A>G (p.Y73C), c.451C>A (p.P151T), c.725C>G (p.S242C), c.752G>A (p.R251Q), and c.1000C>T (p.Q334X). Two other mutations were c.1156C>T (p.R386C) and c.1243-1G>A. Two mutations, c.451C>A and c.1000C>T, accounted for 58% of all mutations in this sample. © 2013 Wiley Periodicals, Inc.