Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III
Glycogen storage disease type III (GSD III) is an autosomal recessive inborn error of metabolism caused by mutations in the glycogen debranching enzyme amylo-1,6-glucosidase gene, which is located on chromosome 1p21.2. GSD III is characterized by the storage of structurally abnormal glycogen, termed...
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ftunivmilanoair:oai:air.unimi.it:2434/299188 2024-02-11T10:03:42+01:00 Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III A. Mili I. Ben Charfeddine O. Mamai W. Cherif L. Adala A. Amara S. Pagliarani S. Lucchiari A. Ayadi N. Tebib A. Harbi J. Bouguila D. H'Mida A. Saad K. Limem M. Gribaa G. Comi A. Mili I. Ben Charfeddine O. Mamai W. Cherif L. Adala A. Amara S. Pagliarani S. Lucchiari A. Ayadi N. Tebib A. Harbi J. Bouguila D. H'Mida A. Saad K. Limem G. Comi M. Gribaa 2012-03 http://hdl.handle.net/2434/299188 https://doi.org/10.1038/jhg.2011.122 eng eng info:eu-repo/semantics/altIdentifier/pmid/22089644 info:eu-repo/semantics/altIdentifier/wos/WOS:000302126700004 volume:57 issue:3 firstpage:170 lastpage:175 numberofpages:6 journal:JOURNAL OF HUMAN GENETICS http://hdl.handle.net/2434/299188 doi:10.1038/jhg.2011.122 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84858956352 amylo-1,6-glucosidase AGL gene glycogen storage disease type III haplotype analysi founder effect novel mutation Settore MED/26 - Neurologia info:eu-repo/semantics/article 2012 ftunivmilanoair https://doi.org/10.1038/jhg.2011.122 2024-01-23T23:30:21Z Glycogen storage disease type III (GSD III) is an autosomal recessive inborn error of metabolism caused by mutations in the glycogen debranching enzyme amylo-1,6-glucosidase gene, which is located on chromosome 1p21.2. GSD III is characterized by the storage of structurally abnormal glycogen, termed limit dextrin, in both skeletal and cardiac muscle and/or liver, with great variability in resultant organ dysfunction. The spectrum of AGL gene mutations in GSD III patients depends on ethnic group. The most prevalent mutations have been reported in the North African Jewish population and in an isolate such as the Faroe Islands. Here, we present the molecular and biochemical analyses of 22 Tunisian GSD III patients. Molecular analysis revealed three novel mutations: nonsense (Tyr1148X) and two deletions (3033_3036del AATT and 3216_3217del GA) and five known mutations: three nonsense (R864X, W1327X and W255X), a missense (R524H) and an acceptor splice-site mutation (IVS32-12A > G). Each mutation is associated to a specific haplotype. Article in Journal/Newspaper Faroe Islands The University of Milan: Archivio Istituzionale della Ricerca (AIR) Faroe Islands Journal of Human Genetics 57 3 170 175 |
institution |
Open Polar |
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The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
op_collection_id |
ftunivmilanoair |
language |
English |
topic |
amylo-1,6-glucosidase AGL gene glycogen storage disease type III haplotype analysi founder effect novel mutation Settore MED/26 - Neurologia |
spellingShingle |
amylo-1,6-glucosidase AGL gene glycogen storage disease type III haplotype analysi founder effect novel mutation Settore MED/26 - Neurologia A. Mili I. Ben Charfeddine O. Mamai W. Cherif L. Adala A. Amara S. Pagliarani S. Lucchiari A. Ayadi N. Tebib A. Harbi J. Bouguila D. H'Mida A. Saad K. Limem M. Gribaa G. Comi Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III |
topic_facet |
amylo-1,6-glucosidase AGL gene glycogen storage disease type III haplotype analysi founder effect novel mutation Settore MED/26 - Neurologia |
description |
Glycogen storage disease type III (GSD III) is an autosomal recessive inborn error of metabolism caused by mutations in the glycogen debranching enzyme amylo-1,6-glucosidase gene, which is located on chromosome 1p21.2. GSD III is characterized by the storage of structurally abnormal glycogen, termed limit dextrin, in both skeletal and cardiac muscle and/or liver, with great variability in resultant organ dysfunction. The spectrum of AGL gene mutations in GSD III patients depends on ethnic group. The most prevalent mutations have been reported in the North African Jewish population and in an isolate such as the Faroe Islands. Here, we present the molecular and biochemical analyses of 22 Tunisian GSD III patients. Molecular analysis revealed three novel mutations: nonsense (Tyr1148X) and two deletions (3033_3036del AATT and 3216_3217del GA) and five known mutations: three nonsense (R864X, W1327X and W255X), a missense (R524H) and an acceptor splice-site mutation (IVS32-12A > G). Each mutation is associated to a specific haplotype. |
author2 |
A. Mili I. Ben Charfeddine O. Mamai W. Cherif L. Adala A. Amara S. Pagliarani S. Lucchiari A. Ayadi N. Tebib A. Harbi J. Bouguila D. H'Mida A. Saad K. Limem G. Comi M. Gribaa |
format |
Article in Journal/Newspaper |
author |
A. Mili I. Ben Charfeddine O. Mamai W. Cherif L. Adala A. Amara S. Pagliarani S. Lucchiari A. Ayadi N. Tebib A. Harbi J. Bouguila D. H'Mida A. Saad K. Limem M. Gribaa G. Comi |
author_facet |
A. Mili I. Ben Charfeddine O. Mamai W. Cherif L. Adala A. Amara S. Pagliarani S. Lucchiari A. Ayadi N. Tebib A. Harbi J. Bouguila D. H'Mida A. Saad K. Limem M. Gribaa G. Comi |
author_sort |
A. Mili |
title |
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III |
title_short |
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III |
title_full |
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III |
title_fullStr |
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III |
title_full_unstemmed |
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III |
title_sort |
molecular and biochemical characterization of tunisian patients with glycogen storage disease type iii |
publishDate |
2012 |
url |
http://hdl.handle.net/2434/299188 https://doi.org/10.1038/jhg.2011.122 |
geographic |
Faroe Islands |
geographic_facet |
Faroe Islands |
genre |
Faroe Islands |
genre_facet |
Faroe Islands |
op_relation |
info:eu-repo/semantics/altIdentifier/pmid/22089644 info:eu-repo/semantics/altIdentifier/wos/WOS:000302126700004 volume:57 issue:3 firstpage:170 lastpage:175 numberofpages:6 journal:JOURNAL OF HUMAN GENETICS http://hdl.handle.net/2434/299188 doi:10.1038/jhg.2011.122 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84858956352 |
op_doi |
https://doi.org/10.1038/jhg.2011.122 |
container_title |
Journal of Human Genetics |
container_volume |
57 |
container_issue |
3 |
container_start_page |
170 |
op_container_end_page |
175 |
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1790600012273549312 |