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

Susanna Bunge, Wim J. Kleijer, Cordula Steglich, Michael Beck, Cornelia Zuther, C. Phillip Morris, Eberhard Schwinger, John J. Hopwood, Hamish S. Scott, Andreas Gal

Research output: Contribution to journalArticle

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Abstract

A group of 46 European patients with mucopoly-saccharidosis type I (MPS I) was screened for mutations of the α-L-iduronidase gene. The 2 common nonsense mutations, W402X and Q70X, were identified in, respectively, 37% and 35% of mutant alleles. Considerable differences were seen in the frequency of these 2 mutations in patients from North Europe (Norway and Finland) and other European countries (mainly The Netherlands and Germany). In Scandinavia, W402X and Q70X account for 17% and 62% of the MPS I alleles, respectively, while in other European countries W402X is about 2.5 times more frequent (48%) than Q70X (19%). Eight novel mutations are described including 4 missense mutations, 1 nonsense mutation, 1 insertion of 2 base pairs, and 2 deletions of 1 and 12 base pairs.

LanguageEnglish
Pages861-866
Number of pages6
JournalHuman Molecular Genetics
Volume3
Issue number6
DOIs
Publication statusPublished - 1 Jun 1994

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Bunge, Susanna ; Kleijer, Wim J. ; Steglich, Cordula ; Beck, Michael ; Zuther, Cornelia ; Morris, C. Phillip ; Schwinger, Eberhard ; Hopwood, John J. ; Scott, Hamish S. ; Gal, Andreas. / 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. In: Human Molecular Genetics. 1994 ; Vol. 3, No. 6. pp. 861-866.
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abstract = "A group of 46 European patients with mucopoly-saccharidosis type I (MPS I) was screened for mutations of the α-L-iduronidase gene. The 2 common nonsense mutations, W402X and Q70X, were identified in, respectively, 37{\%} and 35{\%} of mutant alleles. Considerable differences were seen in the frequency of these 2 mutations in patients from North Europe (Norway and Finland) and other European countries (mainly The Netherlands and Germany). In Scandinavia, W402X and Q70X account for 17{\%} and 62{\%} of the MPS I alleles, respectively, while in other European countries W402X is about 2.5 times more frequent (48{\%}) than Q70X (19{\%}). Eight novel mutations are described including 4 missense mutations, 1 nonsense mutation, 1 insertion of 2 base pairs, and 2 deletions of 1 and 12 base pairs.",
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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. / Bunge, Susanna; Kleijer, Wim J.; Steglich, Cordula; Beck, Michael; Zuther, Cornelia; Morris, C. Phillip; Schwinger, Eberhard; Hopwood, John J.; Scott, Hamish S.; Gal, Andreas.

In: Human Molecular Genetics, Vol. 3, No. 6, 01.06.1994, p. 861-866.

Research output: Contribution to journalArticle

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