How to Cite this Article: Brusius-Facchin AC, De Souza CFM, Schwartz IVD, Riegel M, Melaragno MI, Correia P, Moraes LM, Llerena J, Giugliani R, Leistner- Segal S. 2012. Severe phenotype in MPS II patients associated with a large deletion including contiguous genes. Am J Med Genet Part A. 158A:1055–1059.
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes†
Version of Record online: 10 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 5, pages 1055–1059, May 2012
How to Cite
Brusius-Facchin, A. C., De Souza, C. F. M., Schwartz, I. V. D., Riegel, M., Melaragno, M. I., Correia, P., Moraes, L. M., Llerena, J., Giugliani, R. and Leistner-Segal, S. (2012), Severe phenotype in MPS II patients associated with a large deletion including contiguous genes. Am. J. Med. Genet., 158A: 1055–1059. doi: 10.1002/ajmg.a.35271
- Issue online: 18 APR 2012
- Version of Record online: 10 APR 2012
- Manuscript Accepted: 17 DEC 2011
- Manuscript Received: 12 AUG 2011
- Rede BRIM-CNPq. Grant Number: 402012/2010-0
- Brazilian MPS Network (Rede MPS Brazil)
- mucopolysaccharidosis II;
- hunter syndrome;
- mutation analysis
Hunter disease or mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disorder caused by the deficiency of iduronate-2-sulfatase, which is involved in the catabolism of the glycosaminoglycans (GAGs) heparan and dermatan sulphate. Our aim was to analyze three patients with severe Hunter syndrome that showed a total deletion of the iduronate-2-sulphatase (IDS) gene, after exon by exon PCR. DNA was used as a template for PCR synthesis of IDS, FRAXA, FRAXE, and DXS1113 specific amplicons. The DNA analysis for all three patients demonstrated a complete deletion of IDS, FRAXA, and FRAXE contiguous genes. We further performed SNP-array to delineate the deletion breakpoints and to characterize the deletion extension in the different patients. The results indicated a ∼9.4 Mb deletion in Patient 1, a ∼3.9 Mb deletion of the Xq27.3–Xq28 and a ∼3.1 Mb duplication of the X q28 region in Patient 2 and a ∼41.8 Kb deletion in Patient 3. SNP-array was shown to be important to map for deletion breakpoints. A comprehensive molecular analysis in patients with Hunter syndrome, especially in the ones presenting the severe form, is important to the understanding of the genetic determinants of the phenotype and for the genetic counseling to be provided to the families. © 2012 Wiley Periodicals, Inc.