1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese
Glycogen storage disease type III (GSD III) is an inborn error of glycogen metabolism caused by a deficiency of glycogen debranching enzyme (AGL). Here, we investigate two unrelated Hong Kong Chinese GSD III patients and identify a novel 5-base pair deletional mutation, 2715_2719delTCAGAin exon 22,...
Published in: | Molecular Genetics and Metabolism |
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Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
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Online Access: | https://doi.org/10.1016/j.ymgme.2004.07.017 http://hdl.handle.net/10722/148659 |
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ftunivhongkonghu:oai:hub.hku.hk:10722/148659 2023-05-15T16:10:37+02:00 1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese Mak, TWL Fung, WC Chan, KC Ho, CS Wong, TW Lam, YY Lee, ATC Lam, CW Tong, SF 2004 https://doi.org/10.1016/j.ymgme.2004.07.017 http://hdl.handle.net/10722/148659 eng eng Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme United States Molecular Genetics and Metabolism http://www.scopus.com/mlt/select.url?eid=2-s2.0-8144224418&selection=ref&src=s&origin=recordpage Molecular Genetics And Metabolism, 2004, v. 83 n. 3, p. 271-275 doi:10.1016/j.ymgme.2004.07.017 275 WOS:000225496300010 1096-7192 3 15542399 eid_2-s2.0-8144224418 271 http://hdl.handle.net/10722/148659 83 Glycogen Debranching Enzyme Glycogen Storage Disease Type Iii Article 2004 ftunivhongkonghu https://doi.org/10.1016/j.ymgme.2004.07.017 2023-01-14T15:42:27Z Glycogen storage disease type III (GSD III) is an inborn error of glycogen metabolism caused by a deficiency of glycogen debranching enzyme (AGL). Here, we investigate two unrelated Hong Kong Chinese GSD III patients and identify a novel 5-base pair deletional mutation, 2715_2719delTCAGAin exon 22, in one patient and a nonsense mutation, 1222C>T (R408X) in exon 11, in another patient. Since GSD IIIb is only caused by mutation in exon 3 of the AGL gene, we diagnose our patients to have GSD IIIa, which is consistent with the clinical diagnosis. Until now, R408X has only been reported in Faroe Islands GSDIII patients and was thought to demonstrate a founder effect. In this study, haplotyping of the disease-bearing chromosomes in the AGL locus by 19 intragenic single nucleotide polymorphisms shows that R408X is linked with IVS16+8T and IVS23-21T in our patient while R408X is linked with IVS16+8C and IVS23-21A in the Faroe Islands. The different haplotypes of R408X in Chinese and Faroese indicated that R408X is a recurrent mutation. © 2004 Elsevier Inc. All rights reserved. link_to_subscribed_fulltext Article in Journal/Newspaper Faroe Islands University of Hong Kong: HKU Scholars Hub Faroe Islands Molecular Genetics and Metabolism 83 3 271 275 |
institution |
Open Polar |
collection |
University of Hong Kong: HKU Scholars Hub |
op_collection_id |
ftunivhongkonghu |
language |
English |
topic |
Glycogen Debranching Enzyme Glycogen Storage Disease Type Iii |
spellingShingle |
Glycogen Debranching Enzyme Glycogen Storage Disease Type Iii Mak, TWL Fung, WC Chan, KC Ho, CS Wong, TW Lam, YY Lee, ATC Lam, CW Tong, SF 1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese |
topic_facet |
Glycogen Debranching Enzyme Glycogen Storage Disease Type Iii |
description |
Glycogen storage disease type III (GSD III) is an inborn error of glycogen metabolism caused by a deficiency of glycogen debranching enzyme (AGL). Here, we investigate two unrelated Hong Kong Chinese GSD III patients and identify a novel 5-base pair deletional mutation, 2715_2719delTCAGAin exon 22, in one patient and a nonsense mutation, 1222C>T (R408X) in exon 11, in another patient. Since GSD IIIb is only caused by mutation in exon 3 of the AGL gene, we diagnose our patients to have GSD IIIa, which is consistent with the clinical diagnosis. Until now, R408X has only been reported in Faroe Islands GSDIII patients and was thought to demonstrate a founder effect. In this study, haplotyping of the disease-bearing chromosomes in the AGL locus by 19 intragenic single nucleotide polymorphisms shows that R408X is linked with IVS16+8T and IVS23-21T in our patient while R408X is linked with IVS16+8C and IVS23-21A in the Faroe Islands. The different haplotypes of R408X in Chinese and Faroese indicated that R408X is a recurrent mutation. © 2004 Elsevier Inc. All rights reserved. link_to_subscribed_fulltext |
format |
Article in Journal/Newspaper |
author |
Mak, TWL Fung, WC Chan, KC Ho, CS Wong, TW Lam, YY Lee, ATC Lam, CW Tong, SF |
author_facet |
Mak, TWL Fung, WC Chan, KC Ho, CS Wong, TW Lam, YY Lee, ATC Lam, CW Tong, SF |
author_sort |
Mak, TWL |
title |
1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese |
title_short |
1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese |
title_full |
1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese |
title_fullStr |
1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese |
title_full_unstemmed |
1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese |
title_sort |
1dna-based subtyping of glycogen storage disease type iii: mutation and haplotype analysis of the agl gene in chinese |
publisher |
Academic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme |
publishDate |
2004 |
url |
https://doi.org/10.1016/j.ymgme.2004.07.017 http://hdl.handle.net/10722/148659 |
geographic |
Faroe Islands |
geographic_facet |
Faroe Islands |
genre |
Faroe Islands |
genre_facet |
Faroe Islands |
op_relation |
Molecular Genetics and Metabolism http://www.scopus.com/mlt/select.url?eid=2-s2.0-8144224418&selection=ref&src=s&origin=recordpage Molecular Genetics And Metabolism, 2004, v. 83 n. 3, p. 271-275 doi:10.1016/j.ymgme.2004.07.017 275 WOS:000225496300010 1096-7192 3 15542399 eid_2-s2.0-8144224418 271 http://hdl.handle.net/10722/148659 83 |
op_doi |
https://doi.org/10.1016/j.ymgme.2004.07.017 |
container_title |
Molecular Genetics and Metabolism |
container_volume |
83 |
container_issue |
3 |
container_start_page |
271 |
op_container_end_page |
275 |
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1765995784226996224 |