A Case of Glycogen Storage Disease Type III Diagnosed by Gene Panel Sequencing |
Kim, Seong Wan
(Department of Pediatrics, Ajou University Hospital, Ajou University School of Medicine)
Jang, Ju Young (Department of Pediatrics, Ajou University Hospital, Ajou University School of Medicine) Lee, Jang Hoon (Department of Pediatrics, Ajou University Hospital, Ajou University School of Medicine) Sohn, Young Bae (Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine) Jang, Ja-Hyun (Green Cross Genome) |
1 | Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, et al. Glycogen storage disease type III diagnosis and management guidelines. Genet Med 2010;12:446-63. DOI |
2 | Liu W, Madsen NB, Braun C, Withers SG. Reassessment of the catalytic mechanism of glycogen debranching enzyme. Biochemistry 1991;30:1419-24. DOI |
3 | Shin YS. Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. Semin Pediatr Neurol 2006;13:115-20. DOI |
4 | Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, et al. Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. Genet Med 2010;12:424-30. DOI |
5 | Rousseau-Nepton I, Okubo M, Grabs R, Consortium FC, Mitchell J, Polychronakos C, et al. A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series. CMAJ 2015;187:E68-E73. DOI |
6 | Zimmermann A, Rossmann H, Bucerzan S, Grigorescu-Sido P. A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa. Case Rep Genet 2016;2016:8154910. DOI |
7 | Wang Z, Liu X, Yang BZ, Gelernter J. The role and challenges of exome sequencing in studies of human diseases. Front Genet 2013;4:160. DOI |
8 | Shen J, Bao Y, Liu HM, Lee P, Leonard JV, Chen YT. 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 1996;98:352-7. DOI |
9 | Sentner CP, Vos YJ, Niezen-Koning KN, Mol B, Smit GP. Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene. JIMD Rep 2013;7:19-26. DOI |
10 | Ko JS, Moon JS, Seo JK, Yang HR, Chang JY, Park SS. A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III. J Hum Genet 2014;59:42-5. DOI |
11 | Mogahed EA, Girgis MY, Sobhy R, Elhabashy H, Abdelaziz OM, El-Karaksy H. Skeletal and cardiac muscle involvement in children with glycogen storage disease type III. Eur J Pediatr. 2015;174:1545-8. DOI |
12 | Dagli AI, Zori RT, McCune H, Ivsic T, Maisenbacher MK, Weinstein DA. Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet. J Inherit Metab Dis 2009;32 Suppl 1:S103-6. |
13 | Cosme A, Montalvo I, Sanchez J, Ojeda E, Torrado J, Zapata E, et al. [Type III glycogen storage disease associated with hepatocellular carcinoma]. Gastroenterol Hepatol 2005;28:622-5. DOI |
14 | Ben Chehida A, Ben Messaoud S, Ben Abdelaziz R, Ben Ali N, Boudabous H, Ben Abdelaziz I, et al. Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients. Neuropediatrics 2019;50:22-30. DOI |
15 | Yang BZ, Ding JH, Brown BI, Chen YT. Definitive prenatal diagnosis for type III glycogen storage disease. Am J Hum Genet 1990;47:735-9. |