Mutations among Italian mucopolysaccharidosis type I patients

Journal of Inherited Metabolic Disease

Volumn 20, Issue 6, 1997, Pages 803-806

  Gatti, R ^a   DiNatale, P ^b   Villani, G R D ^b   Filocamo, M ^a   Miller, V ^c   Guo, X H ^c   Nelson, P V ^c   Scott, H S ^c   Hopwood, J J ^c  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

LEVO IDURONIDASE;

ADOLESCENT; ALLELE; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; ENZYME DEFICIENCY; GENE MUTATION; GEOGRAPHIC DISTRIBUTION; HUMAN; HURLER SYNDROME; ITALY; MALE; PHENOTYPE;

ADOLESCENT; ALLELES; CHILD; DNA; GENE FREQUENCY; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; IDURONIDASE; ITALY; MALE; MUCOPOLYSACCHARIDOSIS I; MUTATION; PHENOTYPE; SICILY;

EID: 0030727052     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005323918923     Document Type: Article

References (10)

1. Ashton LJ, Brooks DA, McCourt PAG, Muller VJ, Clements PR, Hopwood JJ (1992) Immunoquantification and enzyme kinetics of α-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients. Am J Hum Genet 50: 787-794.
2. Bunge S, Kleijer WJ, Steglich C, et al (1994) Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet 3: 861-866.
3. Gatti R, Borrone C, Filocamo M, Pannone N, Di Natale P (1985) Prenatal diagnosis of mucopolysaccharidosis I: a special difficulty arising from an unusually low enzyme activity in mother's cells. Prenat Diagn 5: 149-154.
4. Neufeld EF, Muenzer J (1995) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2465-2494.
5. Scott HS, Anson DS, Orsborn AM, et al (1991) Human α-L-iduronidase: cDNA isolation and expression. Proc Natl Acad Sci USA 88: 9695-9699.
6. Scott HS, Guo XH, Hopwood JJ, Morris CP (1992a) Structure and sequence of the human α-L-iduronidase gene. Genomics 13: 1311-1313.
7. Scott HS, Litjens T, Hopwood JJ, Morris CP (1992b) A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. Hum Mutat 1: 103-108.
8. Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ, Morris CP (1992c) α-L-Iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. Hum Mutat 1: 333-339.
9. Scott HS, Litjens T, Nelson PV, et al (1993) Identification of mutations in the α-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. Am J Hum Genet 53: 973-986.
10. Yamagishi A, Tomatsu S, Fukuda S, et al (1996) Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. Hum Mutat 7: 23-29.