How to Cite this Article: Sohn YB, Kim SJ, Park SW, Park H-D, Ki C-S, Kim CH, Huh SW, Paik K-H, Jin D-K. 2010. A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis. Am J Med Genet Part A 152A:3129–3132.
A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis†
Version of Record online: 24 NOV 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 12, pages 3129–3132, December 2010
How to Cite
Sohn, Y. B., Kim, S. J., Park, S. W., Park, H.-D., Ki, C.-S., Kim, C. H., Huh, S. W., Yeau, S., Paik, K.-H. and Jin, D.-K. (2010), A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis. Am. J. Med. Genet., 152A: 3129–3132. doi: 10.1002/ajmg.a.33589
- Issue online: 24 NOV 2010
- Version of Record online: 24 NOV 2010
- Manuscript Accepted: 1 JUN 2010
- Manuscript Received: 11 JUL 2009
- Korea Healthcare Technology R&D Project
- Ministry for Health, Welfare and Family Affairs, Republic of Korea. Grant Number: A080588
- Samsung Biomedical Research Institute. Grant Numbers: C-A6-227-3, C-A9-240-2
- mucopolysaccharidosis type II;
- female Hunter syndrome;
- enzyme replacement therapy
Mucopolysaccharidosis type II (Hunter syndrome) is a lysosomal storage disease caused by a deficiency of iduronate-2-sulfatase. Most reported patients are males because of X-linked recessive inheritance pattern. Only a few female patients with Hunter syndrome have been reported, and there is no prior report of offspring from a patient with Hunter syndrome. In this report, we describe a woman with mild manifestations of Hunter syndrome who gave birth to a daughter. Both the mother and daughter carried the p.R443X mutation in exon 9 of the ID2S gene. Iduronate-2-sulfatase activity in the mother was as low as that found in male Hunter syndrome patients, but it was in the low-normal range in her daughter. Unlike her mother, the daughter did not show any physical signs of Hunter syndrome, and urinary excretion of glycosaminoglycan was within normal range. However, she had severe pulmonary vein stenosis with pulmonary hypertension and a large atrial septal defect and died at 11 months of age. © 2010 Wiley-Liss, Inc.