Mutation analysis in 20 patients with Hunter disease

Human Mutation

Volumn 7, Issue 1, 1996, Pages 76-78

  Goldenfum, Sandra Leistner ^a   Young, Elisabeth ^a   Michelakakis, Helen ^b   Tsagarakis, S ^b   Winchester, Bryan ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; HUMAN CELL; HUNTER SYNDROME; POINT MUTATION; PRIORITY JOURNAL;

BASE SEQUENCE; BLOTTING, SOUTHERN; DNA MUTATIONAL ANALYSIS; DOSAGE COMPENSATION, GENETIC; EXONS; FEMALE; GENE DELETION; HETEROZYGOTE DETECTION; HUMANS; IDURONATE SULFATASE; MALE; MOLECULAR SEQUENCE DATA; MUCOPOLYSACCHARIDOSIS II; MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; X CHROMOSOME;

EID: 0030030552     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1996)7:1<76::AID-HUMU14>3.0.CO;2-P     Document Type: Article

References (13)

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. Bielicki J, Freeman C, Clements PR, Hopwood JJ (1990) Human liver-2-sulphatase. Purification, characterization and catalytic properties. Biochem J 271:75-86.
3. Bunge S, Steiglich C, Zuther C, Beck M, Morris CP, Schwinger E, Schinzel A, Hopwood JJ, Gal A (1993) Iduronate-2-sulfatase gene mutations in 16 patients with mucropolysaccharidosis type II (Hunter syndrome). Hum. Mol. Genet. 2:1871-1875.
4. Flomen R, Grenn 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.
5. Flomen RH, Grenn EP, Green PM, 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.
6. Goldenfum S, Malcolm S, Winchester B (1993) An 8 bp deletion in exon B of the iduronate-2-sulphate sulphatase gene in a case of Hunter disease. Hum Mol Genet 2:1063-1065.
7. Hopwood JJ, Bunge S, Morris CP, Wilsom 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.
8. Neufeld EF, Muenzer J (1989) In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Diseases. 6th Ed. New York: McGraw-Hill, pp 1565-1587.
9. Roberts SH, Upadhyaya M, Sarfarazi M, Harper PS (1989) Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm. J Med Genet 26:309-313.
10. Whitley CB, Anderson RA, Aronovich EL, Crotty PL, Anyane-Yeboa K (1993) Caveat to genotype-phenotype correlation in mucopolysaccharidosis type II: discordant clinical severity of R468W and R468Q mutations of the iduronate-2-sulfatase gene. Hum Mutat 2:235-237.
11. 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.
12. Wilson PJ, Meaney CA, Hopwood JJ, Morris CP (1993) Sequence of the human iduronate 2-sulfatase (IDS) gene. Genomics 17: 773-775.
13. Winchester B, Young E, Geddes S, Genet S, Hurst J, Middelton-Price H, Williams N, Webb M, Habel A, Malcolm S (1992) Female twin with Hunter disease due to nonrandom inactivation of the X-chromosome: A consequence of twinning. Am J Med Genet 44:834-838.