OMIM: 232400Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | AGL |
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| Dna Change: | c.3216_3217delGA |
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| Protein Change: | p.Glu1072AspfsX36 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 24 |
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| Transcript: | NM_000642.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | region of Kalaa Kbira situated in the town of Sousse center-east | 5 patients/5 unrelated families | NA | Mili A et al., 2012Mili A, Ben Charfeddine I, Amara A, Mamaï O, Adala L, Ben Lazreg T, Bouguila J, Saad A, Limem K, Gribaa M, . A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.. Clin. Genet.. 2012; 82(6):534-9 |
| Gene/Locus: | AGL |
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| Dna Change: | c.3981G>A (3908G>A) |
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| Protein Change: | p.Trp1327X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 30 |
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| Transcript: | NM_000642.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | Centre (Mahdia) | 9 patients/26 patients | NA | Cherif W et al., 2012Cherif W, Ben Rhouma F, Messai H, Mili A, Gribaa M, Kefi R, Ayadi A, Boughamoura L, Chemli J, Saad A, Kaabachi N, Sfar MT, Ben Dridi MF, Tebib N, Abdelhak S, . High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.. Ann. Biol. Clin. (Paris). 2012; 70(6):648-50 |
| Turkey | NA | East Black Sea | 6 patients/ 23 patients | NA | Aoyama Y et al., 2009Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M, . 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.. 2009; 54(11):681-6 |
| Gene/Locus: | AGL |
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| Dna Change: | c.1019delA |
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| Protein Change: | p.Glu340Aspfs*9 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 8 |
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| Transcript: | NM_000642.2 |
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| Gene/Locus: | AGL |
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| Dna Change: | c.958+1G>A |
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| Protein Change: | |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Splice site |
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| Location: | intron 7 |
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| Transcript: | NM_000642.2 |
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References
Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M, 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.. 2009; 54(11):681-6
Cherif W, Ben Rhouma F, Messai H, Mili A, Gribaa M, Kefi R, Ayadi A, Boughamoura L, Chemli J, Saad A, Kaabachi N, Sfar MT, Ben Dridi MF, Tebib N, Abdelhak S, High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.Ann. Biol. Clin. (Paris). 2012; 70(6):648-50
Mili A, Ben Charfeddine I, Amara A, Mamaï O, Adala L, Ben Lazreg T, Bouguila J, Saad A, Limem K, Gribaa M, A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.Clin. Genet.. 2012; 82(6):534-9
Okubo M, Ucar SK, Podskarbi T, Murase T, Shin YS, Coker M, Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.Clin. Chim. Acta. 2015; 439(0):162-7