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Article: 1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese
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Title1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese
 
AuthorsLam, CW3
Lee, ATC3
Lam, YY1
Wong, TW
Mak, TWL2
Fung, WC
Chan, KC
Ho, CS1
Tong, SF3
 
KeywordsGlycogen Debranching Enzyme
Glycogen Storage Disease Type Iii
 
Issue Date2004
 
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
 
CitationMolecular Genetics And Metabolism, 2004, v. 83 n. 3, p. 271-275 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.ymgme.2004.07.017
 
AbstractGlycogen 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.
 
ISSN1096-7192
2012 Impact Factor: 2.834
2012 SCImago Journal Rankings: 0.980
 
DOIhttp://dx.doi.org/10.1016/j.ymgme.2004.07.017
 
ISI Accession Number IDWOS:000225496300010
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorLam, CW
 
dc.contributor.authorLee, ATC
 
dc.contributor.authorLam, YY
 
dc.contributor.authorWong, TW
 
dc.contributor.authorMak, TWL
 
dc.contributor.authorFung, WC
 
dc.contributor.authorChan, KC
 
dc.contributor.authorHo, CS
 
dc.contributor.authorTong, SF
 
dc.date.accessioned2012-05-29T06:14:27Z
 
dc.date.available2012-05-29T06:14:27Z
 
dc.date.issued2004
 
dc.description.abstractGlycogen 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.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationMolecular Genetics And Metabolism, 2004, v. 83 n. 3, p. 271-275 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.ymgme.2004.07.017
 
dc.identifier.doihttp://dx.doi.org/10.1016/j.ymgme.2004.07.017
 
dc.identifier.epage275
 
dc.identifier.isiWOS:000225496300010
 
dc.identifier.issn1096-7192
2012 Impact Factor: 2.834
2012 SCImago Journal Rankings: 0.980
 
dc.identifier.issue3
 
dc.identifier.pmid15542399
 
dc.identifier.scopuseid_2-s2.0-8144224418
 
dc.identifier.spage271
 
dc.identifier.urihttp://hdl.handle.net/10722/148659
 
dc.identifier.volume83
 
dc.languageeng
 
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
 
dc.publisher.placeUnited States
 
dc.relation.ispartofMolecular Genetics and Metabolism
 
dc.relation.referencesReferences in Scopus
 
dc.subjectGlycogen Debranching Enzyme
 
dc.subjectGlycogen Storage Disease Type Iii
 
dc.title1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese
 
dc.typeArticle
 
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<contributor.author>Mak, TWL</contributor.author>
<contributor.author>Fung, WC</contributor.author>
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<description.abstract>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&gt;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. &#169; 2004 Elsevier Inc. All rights reserved.</description.abstract>
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Author Affiliations
  1. Kwong Wah Hospital
  2. Tuen Mun Hospital
  3. Prince of Wales Hospital Hong Kong