Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

Molecular Genetics and Metabolism

Volumn 92, Issue 4, 2007, Pages 325-335

  McCready, M E ^a,b   Carson, N L ^a,b   Chakraborty, P ^a,b   Clarke, J T R ^c   Callahan, J W ^c   Skomorowski, M A ^c   Chan, A K J ^d   Bamforth, F ^d   Casey, R ^e   Rupar, C A ^f   Geraghty, M T ^a,b  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF ALBERTA   (Canada)

^e ALBERTA CHILDREN'S HOSPITAL   (Canada)

^f UNIVERSITY OF WESTERN ONTARIO   (Canada)

Author keywords

Acid glucosidase; Acid maltase deficiency; GAA; Glycogen storage disease, type II; Mutation; Pompe disease

Indexed keywords

DNA; GLUCAN 1,4 ALPHA GLUCOSIDASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY COUNSELING; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GLYCOGEN STORAGE DISEASE TYPE 2; HAPLOTYPE; HUMAN; INTRON; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ALLELES; ALPHA-GLUCOSIDASES; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MUTATION;

EID: 36148951053     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.07.006     Document Type: Article

References (36)

1. Kishnani P.S., Steiner R.D., Bali D., Berger K., Byrne B.J., Case L., Crowley J.F., Downs S., Howell R.R., Kravitz R.M., Mackey J., Marsden D., Martins A.M., Millington D.S., Nicolino M., O'Grady G., Patterson M.C., Rapoport D.M., Slonim A., Spencer C.T., Tifft C.J., and Watson M.S. Pompe disease diagnosis and management guideline. Genet. Med. 8 (2006) 267-288
2. Slonim A.E., Bulone L., Ritz S., Goldberg T., Chen A., and Martiniuk F. Identification of two subtypes of infantile acid maltase deficiency. J. Pediatr. 137 (2000) 283-285
3. Hirschorn R., and Reuser A.J.J. Glycogen storage type II: acid a-glucosidase (acid maltase) deficiency. In: Scriver C.S., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Basis of Inherited Disease (2001), McGraw-Hill 3389-3420
4. Huie M.L., Chen A.S., Tsujino S., Shanske S., DiMauro S., Engel A.G., and Hirschhorn R. Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T → G) mutation in a majority of patients and a novel IVS10 (+1GT → CT) mutation. Hum. Mol. Genet. 3 (1994) 2231-2236
5. Laforet P., Nicolino M., Eymard P.B., Puech J.P., Caillaud C., Poenaru L., and Fardeau M. Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 55 (2000) 122-1128
6. Montalvo A.L., Bembi B., Donnarumma M., Filocamo M., Parenti G., Rossi M., Merlini L., Buratti E., De F.P., Dardis A., Stroppiano M., Ciana G., and Pittis M.G. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. Hum. Mutat. 27 (2006) 999-1006
7. Kroos M.A., Van der K.M., Van Diggelen O.P., Kleijer W.J., Reuser A.J., Van den Boogaard M.J., Ausems M.G., Ploos van Amstel H.K., Poenaru L., and Nicolino M. Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. J. Med. Genet. 32 (1995) 836-837
8. Adams E.M., Becker J.A., Griffith L., Segal A., Plotz P.H., and Raben N. Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans. Hum. Mutat. 10 (1997) 128-134
9. Becker J.A., Vlach J., Raben N., Nagaraju K., Adams E.M., Hermans M.M., Reuser A.J., Brooks S.S., Tifft C.J., Hirschhorn R., Huie M.L., Nicolino M., and Plotz P.H. The African origin of the common mutation in African American patients with glycogen-storage disease type II. Am. J. Hum. Genet. 62 (1998) 991-994
10. Lin C.Y., and Shieh J.J. Molecular study on the infantile form of Pompe disease in Chinese in Taiwan. Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 37 (1996) 115-121
11. Ko T.M., Hwu W.L., Lin Y.W., Tseng L.H., Hwa H.L., Wang T.R., and Chuang S.M. Molecular genetic study of Pompe disease in Chinese patients in Taiwan. Hum. Mutat. 13 (1999) 380-384
12. Tsujino S., Huie M., Kanazawa N., Sugie H., Goto Y., Kawai M., Nonaka I., Hirschhorn R., and Sakuragawa N. Frequent mutations in Japanese patients with acid maltase deficiency. Neuromuscul. Disord. 10 (2000) 599-603
13. Shanske S., and DiMauro S. Late-onset acid maltase deficiency. Biochemical studies of leukocytes. J. Neurol. Sci. 50 (1981) 57-62
14. Umapathysivam K., Hopwood J.J., and Meikle P.J. Determination of acid alpha-glucosidase activity in blood spots as a diagnostic test for Pompe disease. Clin. Chem. 47 (2001) 1378-1383
15. Okumiya T., Keulemans J.L., Kroos M.A., Van der Beek N.M., Boer M.A., Takeuchi H., Van Diggelen O.P., and Reuser A.J. A new diagnostic assay for glycogen storage disease type II in mixed leukocytes. Mol. Genet. Metab. 88 (2006) 22-28
16. Chamoles N.A., Niizawa G., Blanco M., Gaggioli D., and Casentini C. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clin. Chim. Acta 347 (2004) 97-102
17. Meikle P.J., Grasby D.J., Dean C.J., Lang D.L., Bockmann M., Whittle A.M., Fietz M.J., Simonsen H., Fuller M., Brooks D.A., and Hopwood J.J. Newborn screening for lysosomal storage disorders. Mol. Genet. Metab. 88 (2006) 307-314
18. Jack R.M., Gordon C., Scott C.R., Kishnani P.S., and Bali D. The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease. Genet. Med. 8 (2006) 307-312
19. Zhang H., Kallwass H., Young S.P., Carr C., Dai J., Kishnani P.S., Millington D.S., Keutzer J., Chen Y.T., and Bali D. Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease. Genet. Med. 8 (2006) 302-306
20. Ausems M.G., ten Berg K., Sandkuijl L.A., Kroos M.A., Bardoel A.F., Roumelioti K.N., Reuser A.J., Sinke R., and Wijmenga C. Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations. J. Med. Genet. 38 (2001) 527-529
21. Dagnino F., Stroppiano M., Regis S., Bonuccelli G., and Filocamo M. Evidence for a founder effect in Sicilian patients with glycogen storage disease type II. Hum. Hered. 50 (2000) 331-333
22. Slonim A.E., Coleman R.A., McElligot M.A., Najjar J., Hirschhorn K., Labadie G.U., Mrak R., Evans O.B., Shipp E., and Presson R. Improvement of muscle function in acid maltase deficiency by high-protein therapy. Neurology 33 (1983) 34-38
23. Boerkoel C.F., Exelbert R., Nicastri C., Nichols R.C., Miller F.W., Plotz P.H., and Raben N. Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II. Am. J. Hum. Genet. 56 (1995) 887-897
24. Ausems M.G., Verbiest J., Hermans M.P., Kroos M.A., Beemer F.A., Wokke J.H., Sandkuijl L.A., Reuser A.J., and van der Ploeg A.T. Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling. Eur. J. Hum. Genet. 7 (1999) 713-716
25. Vorgerd M., Burwinkel B., Reichmann H., Malin J.P., and Kilimann M.W. Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. Neurogenetics 1 (1998) 205-211
26. Hermans M.M., van Leenen D., Kroos M.A., Beesley C.E., van der Ploeg A.T., Sakuraba H., Wevers R., Kleijer W., Michelakakis H., Kirk E.P., Fletcher J., Bosshard N., Basel-Vanagaite L., Besley G., and Reuser A.J. Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. Hum. Mutat. 23 (2004) 47-56
27. Hirschhorn R., and Huie M.L. Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally "common" in white populations. J. Med. Genet. 36 (1999) 85-86
28. Hermans M.M., De Graaff E., Kroos M.A., Mohkamsing S., Eussen B.J., Joosse M., Willemsen R., Kleijer W.J., Oostra B.A., and Reuser A.J. The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II. Hum. Mol. Genet. 3 (1994) 2213-2218
29. Huie M.L., Tsujino S., Sklower B.S., Engel A., Elias E., Bonthron D.T., Bessley C., Shanske S., DiMauro S., Goto Y.I., and Hirschhorn R. Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. Biochem. Biophys. Res. Commun. 244 (1998) 921-927
30. Kroos M.A., Kirschner J., Gellerich F.N., Hermans M.M., van der Ploeg A.T., Reuser A.J., and Korinthenberg R. A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. Neuromuscul. Disord. 14 (2004) 371-374
31. Shin Y.S. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin. Pediatr. Neurol. 13 (2006) 115-120
32. Hermans M.M., Kroos M.A., van Beeumen J., Oostra B.A., and Reuser A.J. Human lysosomal alpha-glucosidase. Characterization of the catalytic site. J. Biol. Chem. 266 (1991) 13507-13512
33. Hers H.G. alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). Biochem. J. 86 (1963) 11-16
34. Kishnani P.S., Hwu W.L., Mandel H., Nicolino M., Yong F., and Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J. Pediatr. 148 (2006) 671-676
35. Hermans M.M., Kroos M.A., De Graaff E., Oostra B.A., and Reuser A.J. Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. Hum. Mutat. 2 (1993) 268-273
36. Kroos M.A., Pomponio R.J., Hagemans M.L., Keulemans J.L.M., Phipps M., DeRiso M., Palmer R.E., Ausems M.G.E.M., Van der Beek N.A.M.E., Van Diggelen O.P., Halley D.J.J., Van der Ploeg A.T., and Reuser A.J.J. Broad spectrum of Pompe disease in patients with the same c.-32-13T → G haplotype. Neurology 68 (2007) 110-115