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© 1994 Oxford University Press

OTHER

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common {alpha}-L-iduronidase mutations (W402X and Q70X) among European patients

Susanna Bunge*, Wim J. Kleijer1, Cordula Steglich, Michael Beck2, Cornelia Zuther, C.Phillip Morris3, Eberhard Schwinger, John J. Hopwood3, Hamish S. Scott3 and Andreas Gal

Institut für Humangenetik, Medizinische Universität Ratzeburger Allee 160, D-23538 Lübeck, Germany 1Department of Clinical Genetics, Erasmus University NL-3000 DR Rotterdam, The Netherlands 2Kinderklinik der Universität, D-55101 Mainz Germany 3Lysosomal Diseases Research Unit, Department of Chemical Pathology, Adelaide Children's Hospital North Adelaide, Australia

* To whom correspondence should be addressed

Received December 20, 1993; Revised February 28, 1994; Accepted February 28, 1994

A group of 46 European patients with mucopoly-saccharidosis type I (MPS I) was screened for mutations of the {alpha}-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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