Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7363
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Type: Journal article
Title: Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
Author: Hermans, M.
van Leenen, D.
Kroos, M.
Beesley, C.
Van der Ploeg, A.
Sakuraba, H.
Wevers, R.
Kleijer, W.
Mikelakakis, H.
Kirk, E.
Fletcher, J.
Bosshard, N.
Basel-Vanagaite, L.
Besley, G.
Reuser, A.
Citation: Human Mutation, 2004; 23(1):47-56
Publisher: Wiley-Liss
Issue Date: 2004
ISSN: 1059-7794
1098-1004
Statement of
Responsibility: 
Monique M.P. Hermans, Dik van Leenen, Marian A. Kroos, Clare E. Beesley, Ans T. Van der Ploeg, Hitoshi Sakuraba, Ron Wevers, Wim Kleijer, Helen Michelakakis, Edwin P. Kirk, Janice Fletcher, Nils Bosshard, Lina Basel-Vanagaite, Guy Besley, and Arnold J.J. Reuser
Abstract: Patients with glycogen storage disease type II (GSDII, Pompe disease) suffer from progressive muscle weakness due to acid alpha-glucosidase deficiency. The disease is inherited as an autosomal recessive trait with a spectrum of clinical phenotypes. We have investigated 29 cases of GSDII and thereby identified 55 pathogenic mutations of the acid alpha-glucosidase gene (GAA) encoding acid maltase. There were 34 different mutations identified, 22 of which were novel. All of the missense mutations and two other mutations with an unpredictable effect on acid alpha-glucosidase synthesis and function were transiently expressed in COS cells. The effect of a novel splice-site mutation was investigated by real-time PCR analysis. The outcome of our analysis underscores the notion that the clinical phenotype of GSDII is largely dictated by the nature of the mutations in the GAA alleles. This genotype-phenotype correlation makes DNA analysis a valuable tool to help predict the clinical course of the disease.
Keywords: COS Cells; Animals; Humans; Glycogen Storage Disease Type II; alpha-Glucosidases; Glucan 1,4-alpha-Glucosidase; Genotype; Phenotype; Mutation; Mutation, Missense; Polymorphism, Genetic; Adolescent; Aged; Child; Child, Preschool; Infant
Description: Copyright © 2003 Wiley-Liss, Inc.
Provenance: Published Online: 19 Dec 2003
RMID: 0020040077
DOI: 10.1002/humu.10286
Appears in Collections:Paediatrics publications

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