Biochemical and Molecular Analysis in a Patient with the Severe Form of Hunter Syndrome after Bone Marrow Transplantation

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 64, Issue 4, 1996, Pages 531-535

  Li, Peining ^a   Thompson, Jerry N ^a   Hug, George ^b   Huffman, Paula ^a   Chuck, Gail ^b  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Bone marrow transplantation; Hunter syndrome; Iduronate 2 sulfatase; Mucopolysaccharidoses; Nonsense mutation

Indexed keywords

GLYCOSAMINOGLYCAN; IDURONATE 2 SULFATASE;

ALLELE; ARTICLE; BONE MARROW TRANSPLANTATION; CASE REPORT; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; HUMAN; HUMAN CELL; HUNTER SYNDROME; LEUKOCYTE; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SKIN FIBROBLAST; X CHROMOSOME;

BONE MARROW TRANSPLANTATION; CHILD; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS II; PEDIGREE; POLYMERASE CHAIN REACTION;

EID: 0029837349     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960906)64:4<531::AID-AJMG1>3.0.CO;2-S     Document Type: Article

References (20)

1. Bach G, Eisenberg F, Cantz M, Neufeld EF (1973): The defect in the Hunter syndrome: Deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci USA 70:2134-2138.
2. Bunge S, Stelich C, Beck M, Rosenkranz W, Schwinger E, Hopwood JJ, Gal A (1992): Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysacharidosis type II (Hunter syndrome). Hum Mol Genet 1:335-339.
3. Dean MF, Stevens RL, Muir H, Benson PF, Button LR, Anderson RL, Boylston A, Mowbray J (1979): Enzyme replacement therapy by fibroblast transplantation: Long-term biochemical study in three cases of Hunter's syndrome. J Clin Invest 63:138-146.
4. Dietz HC, Valle D, Francomano CA, Kendzior RJ, Pyeritz RE, Cutting GR (1993): The skipping of constitutive exons in vivo induced by nonsense mutations. Science 259:680-683.
5. DiFerrante N, Nichols BL, Donnelly PV, Neri G, Hrgovcic R, Berglund RK (1971): Induced degradation of glycosaminoglycans in Hurler's and Hunter's syndromes by plasma infusion. Proc Natl Acad Sci USA 68:303-307.
6. Dische Z (1947): A new specific color reaction of hexuronic acids. J Biol Chem 167:189-198.
7. Dorfman A (1966): The mucopolysaccharidoses. In Stanbury JB, Wyngaarden JB, Fredrickson DS (eds): "The Metabolic Basis of Inherited Disease," 2nd ed. New York: McGraw-Hill, pp 963-994.
8. Flomen RH, Green PM, Bentley DR, Giannelli F, Green EP (1992): Detection of point mutations and a gross deletion in six Hunter syndrome patients. Genomics 13:543-550.
9. Flomen RH, Green PM, Green EP, Bentley DR, Giannelli F (1993): Determination of the organisation of coding sequences within the iduronate sulphate sulphatase (IDS) gene. Hum Mol Genet 2:5-10.
10. Fratantoni JC, Hall CW, Neufeld EF (1968): Hurler and Hunter syndromes: Mutual correction of the defects in cultured fibroblasts. Science 162:570-572.
11. Hopwood JJ, Bunge S, Morris CP, Wilson PJ, Steglich C, Beck M, Schwinger E, Gal A (1993): Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene. Hum Mutat 2:435-442.
12. Hug G, Thompson JN, Chuck G, Harris R (1994): Loss of "abnormal lysosomes" in liver and skin and biochemical changes in liver, blood and urine in MPS II four years after bone marrow transplantation. Pediatr Res 35:162.
13. Jonsson JJ, Aronovich EL, Braun SE, Whitley CB (1995): Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer-assisted interpretation: Toward mutation mapping of the iduronate-2-sulfatase. Am J Hum Genet 56:597-607.
14. Krivit W, Whitley CB, Chang PN, Shapiro E, Belani KG, Snover D, Summers G, Blazar B (1990): Lysosomal storage diseases treated by bone marrow transplantation: Review of 21 patients. In Johnson FL, Pochedly C (eds): "Bone Marrow Transplantation in Children." New York: Raven Press, pp 261-287.
15. Li P, Huffman P, Thompson JN (1995): Mutations of the iduronate-2-sulfatase gene on a T146T background in three patients with Hunter syndrome. Hum Mutat 5:272-274.
16. Neufeld EF, Muenzer J (1995): The mucopolysaccharidoses. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic Basis of Inherited Disease," 6th ed. New York: McGraw-Hill, pp 2465-2494.
17. Smith RL, Gilkerson E (1979): Quantification of glycosaminoglycan hexosamine using 3-methyl-2-benzothiazione hydrazone hydrochloride. Anal Biochem 98:478-480.
18. 4-glycosaminoglycans. In Hommes FA (ed): "Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual." New York: Wiley-Liss, pp 567-586.
19. Wilson PJ, Morris CP, Anson DS, Occhiodoro T, Bielicki J, Clements PR, Hopwood JJ (1990): Hunter syndrome: Isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci USA 87:8531-8535.
20. Young ID, Harper PS, Newcombe RG, Archer IM (1982): A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms. J Med Genet 19:408-411.