Erratum: Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III (Journal of Human Genetics (2012) 57, (170-175) DOI: 10.1038/jhg.2011.122);Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III

Journal of Human Genetics

Volumn 57, Issue 3, 2012, Pages 170-175

  Mili, Amira ^a,b   Ben Charfeddine, Ilhem ^a   Mamaï, Ons ^a   Cherif, Wafa ^c   Adala, Labiba ^a   Amara, Abdelbasset ^a   Pagliarani, Serena ^d   Lucchiari, Sabrina ^d   Ayadi, Abdelkarim ^e   Tebib, Neji ^f   Harbi, Abdelaziz ^g   Bouguila, Jihene ^a   H'Mida, Dorra ^a   Saad, Ali ^a   Limem, Khalifa ^b   Comi, G P ^d   Gribaa, Moez ^a  

^a FARHAT HACHED HOSPITAL   (Tunisia)

^b UNIVERSITY OF SOUSSE   (Tunisia)

^c PASTEUR INSTITUTE OF TUNIS   (Tunisia)

^d UNIVERSITY OF MILAN   (Italy)

^e Tahar Sfar University Hospital   (Tunisia)

^f LA RABTA HOSPITAL   (Tunisia)

^g SAHLOUL UNIVERSITY HOSPITAL   (Tunisia)

Author keywords

AGL gene; amylo 1,6 glucosidase; founder effect; glycogen storage disease type III; haplotype analysis; novel mutation

Indexed keywords

ADENINE; GLYCOGEN DEBRANCHING ENZYME; GUANINE; TYROSINE;

ADOLESCENT; ARTICLE; BINDING SITE; CHEMICAL ANALYSIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENETIC SCREENING; GLYCOGEN STORAGE DISEASE TYPE 3; HAPLOTYPE; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SCHOOL CHILD; TUNISIA;

EID: 84858956352     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.3     Document Type: Erratum

References (38)

1. Bao, Y., Dawson, T. L. Jr & Chen, Y. T. Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5′ flanking region. Genomics 38, 155-165 (1996).
2. Chen, Y. T. in The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C. R. BAL, Sly, W. S. and Valle, D.). pp 1521-1551 (McGraw-Hill, New York, 2001).
3. Bao, Y., Yang, B. Z., Dawson, T. L. Jr & Chen, Y. T. Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms. Gene 197, 389-398 (1997).
4. Ding, J. H., de Barsy, T., Brown, B. I., Coleman, R. A. & Chen, Y. T. Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. J. Pediatr. 116, 95-100 (1990).
5. Van Hoof, F. & Hers, H. G. The subgroups of type 3 glycogenosis. Eur. J. Biochem. 2, 265-270 (1967).
6. Coleman, R. A., Winter, H. S., Wolf, B., Gilchrist, J. M. & Chen, Y. T. Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. Ann. Intern. Med. 116, 896-900 (1992).
7. Lucchiari, S., Pagliarani, S., Salani, S., Filocamo, M., Di Rocco, M., Melis, D. et al. Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL. Hum. Mutat. 27, 600-601 (2006).
8. Okubo, M., Horinishi, A., Takeuchi, M., Suzuki, Y., Sakura, N., Hasegawa, Y. et al. Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. Hum. Genet. 106, 108-115 (2000).
9. Shaiu, W. L., Kishnani, P. S., Shen, J., Liu, H. M. & Chen, Y. T. Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. Mol. Genet. Metab. 69, 16-23 (2000).
10. Parvari, R., Moses, S., Shen, J., Hershkovitz, E., Lerner, A. & Chen, Y. T. A single-base deletion in the 3′-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. Eur. J. Hum. Genet. 5, 266-270 (1997).
11. Aoyama, Y., Ozer, I., Demirkol, M., Ebara, T., Murase, T., Podskarbi, T. et al. Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. J. Hum. Genet. 54, 681-686 (2009).
12. Ismail, H. Glycogen storage disease type III presenting with secondary diabetes and managed with insulin: a case report. Cases J. 2, 6891 (2009).
13. Sidbury, J B. Jr, Gitzelmann, R. & Fisher, J. The glycogenoses. Further observations on glycogen in erythrocytes of patients with glycogenosis. Helv. Paediatr. Acta 16, 506-516 (1961).
14. Hers, H. G. & Mathieu, M. (eds) The Mechanism of Action of Amylo-l,6 glucosidase. A Ciba Foundation Symp. London: Churchill 1984.
15. Brown, D. H., Waindle, L. M. & Brown, B. I. The apparent activity in vivo of the lysosomal pathway of glycogen catabolism in cultured human skin fibroblasts from patients with type III glycogen storage disease. J. Biol. Chem. 253, 5005-5011 (1978).
16. Gribaa, M., Salih, M., Anheim, M., Lagier-Tourenne, C., H'Mida, D., Drouot, N. et al. A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23. Brain 130(Pt 7), 1921-1928 (2007).
17. Bhuiyan, J., Al Odaib, A. N. & Ozand, P. T. A simple, rapid test for the differential diagnosis of glycogen storage disease type 3. Clin. Chim. Acta 335, 21-26 (2003).
18. Labrune, P., Eberschweiler, P. T., Boudjemline, A. M., Hubert-Buron, A., Petit, F. &Gajdos, V. Natural history of hepatic glycogen storage diseases [article in French]. Presse Med. 37, 1172-1177 (2008).
19. Oh, S. H., Park, H. D., Ki, C. S., Choe, Y. H. & Lee, S. Y. Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III. Clin. Chem. Lab. Med. 46, 1245-1249 (2008).
20. Dai, Y. J., Chen, L., Guo, Y. P., Ren, H. T., Zhao, Y. H., Wei, M. et al. Clinical and pathological features of glycogen storage disease type III [article in Chinese]. Zhonghua Yi Xue Za Zhi. 89, 1064-1066 (2009).
21. Nadaj-Pakleza, A. A., Vincitorio, C. M., Laforet, P., Eymard, B., Dion, E. & Teijeira, S. Permanent muscle weakness in McArdle disease. Muscle Nerve 40, 350-357 (2009).
22. Labrune, P., Huguet, P. & Odievre, M. Cardiomyopathy in glycogen-storage disease type III: clinical and echographic study of 18 patients. Pediatr. Cardiol. 12, 161-163 (1991).
23. Maire, I., Baussan, C., Moatti, N., Mathieu, M. & Lemonnier, A. Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience. Clin. Biochem. 24, 169-178 (1991).
24. Shin, Y. S. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin. Pediatr. Neurol. 13, 115-120 (2006).
25. Lee, P., Burch, M. & Leonard, J V. Plasma creatine kinase and cardiomyopathy in glycogen storage disease type III. J Inherit Metab Dis. 18, 751-752 (1995).
26. Bosch, E., Clarimon, J., Perez-Lezaun, A. & Calafell, F. STR data for 21 loci in northwestern. Africa Forensic Sci. Int. 116, 41-51 (2001).
27. Nebel, A., Landau-Tasseron, E., Filon, D., Oppenheim, A. & Faerman, M. Genetic evidence for the expansion of Arabian tribes into the Southern Levant and North Africa. Am. J. Hum. Genet. 70, 1594-1596 (2002).
28. Lefevre-Witier, P., Aireche, H., Benabadji, M., Darlu, P., Melvin, K., Sevin, A. et al. Genetic structure of Algerian populations. Am. J. Hum. Biol. 18, 492-501 (2006).
29. Schoser, B., Glaser, D. & Muller-Hocker, J. Clinicopathological analysis of the homozygous p.W1327X AGL mutation in glycogen storage disease type 3. Am. J. Med. Genet. A 146A, 2911-2915 (2008).
30. Aoyama, Y., Endo, Y., Ebara, T., Murase, T., Shin, Y. S., Podskarbi, T. et al. Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa. Pediatr. Int. 52, 145-147 (2010).
31. Okubo, M., Horinishi, A., Nakamura, N., Aoyama, Y., Hashimoto, M. & Endo, Y. A novel pointmutation in an acceptor splice site of intron 32 (IVS32 A-12->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. Hum. Genet. 102, 1-5 (1998).
32. Horinishi, A., Okubo, M., Tang, N. L., Hui, J., To, K. F., Mabuchi, T. et al. Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III. J. Hum. Genet. 47, 55-59 (2002).
33. Shen, J.,Bao, Y., Liu, H. M., Lee, P., Leonard, J. V. & Chen, Y. T. Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. J. Clin. Invest. 98, 352-357 (1996).
34. Endo, Y., Horinishi, A., Vorgerd, M., Aoyama, Y., Ebara, T., Murase, T. et al. Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey. J. Hum. Genet. 51, 958-963 (2006).
35. Nakayama, A., Yamamoto, K. & Tabata, S. Identification of the catalytic residues of bifunctional glycogen debranching enzyme. J. Biol. Chem. 276, 28824-28828 (2001).
36. Shen, J. J. & Chen, Y. T. Molecular characterization of glycogen storage disease type III. Curr. Mol. Med. 2, 167-175 (2002).
37. Lucchiari, S., Fogh, I., Prelle, A., Parini, R., Bresolin, N., Melis, D. et al. Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area. Am. J. Med. Genet. 109, 183-190 (2002).
38. Lucchiari, S., Donati, M. A., Melis, D., Filocamo, M., Parini, R., Bresolin, N. et al. Mutational analysis of the AGL gene: five novel mutations in GSD III patients. Hum. Mutat. 22, 337 (2003).