Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId

Endo, Yoriko; Fateen, Ekram; Shabrawy, Mortada El; Aoyama, Yoshiko; Ebara, Tetsu; Podskarbi, T.; Shin, Yoon S.; Okubo, Minoru

doi:10.1515/cclm.2009.281

Cited by 11 publications

(9 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This is the second mutation described in Tunisian patients. Previously, Lucchiari et al reported a homozygous W1327X substitution located in exon 31 of AGL gene in Tunisian GSD III patient living in Italy (11,22) which also have been reported in Egyptian patients (18).…”

Section: Discussionmentioning

confidence: 73%

See 1 more Smart Citation

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect

et al. 2011

View full text Add to dashboard Cite

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and muscles and caused by deficiency in the glycogen debranching enzyme, the amylo-1,6-glucosidase (AGL). In this study, we report the clinical, biochemical and genotyping features of five unrelated GSD III patients coming from the same region in Tunisia. The concentration of erythrocyte glycogen and AGL activity were measured by colorimetric and fluorimetric methods, respectively. Four CA/TG microsatellite markers flanking the AGL gene in chromosome 1 were amplified with fluoresceinated primers. The full coding exons and their relevant exon-intron boundaries of the AGL gene were directly sequenced for the patients and their parents. All patients showed a striking increase of erythrocytes glycogen content. No AGL activity was detected in peripheral leukocytes. Sequencing of the AGL gene identified a c.3216_3217delGA (p.Glu1072AspfsX36) mutation in the five patients which leads to a premature termination, abolishing the AGL activity. Haplotype analysis showed that the mutation was associated with a common homozygote haplotype. Our results suggested the existence of a founder effect responsible for GSD III in this region of Tunisia.

show abstract

Section: Discussionmentioning

confidence: 73%

“…Sixteen SNPs in AGL gene were determined, as described previously (18). SNPs numbers were cited according to database of SNPs (dbSNP Build 130) available from http://www.ncbi.nlm.nih.gov/SNP/.…”

Section: Methodsmentioning

confidence: 99%

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect

et al. 2011

View full text Add to dashboard Cite

show abstract

“…Phenotypic variation is common among patients with different genotypes who have glycogen storage disease type IIIa. 1,3,11,16,17 In adults, the condition may only be diagnosed late once hepatomegaly, cirrhosis, hepatic carcinoma, cardiomyopathy or neuro-muscular dysfunction has developed. 18 Clinical variability among patients with the same mutation could be related to the age at diagnosis, compliance with dietary recommendations, environment or unknown modifying genes.…”

Section: Discussionmentioning

confidence: 99%

“…Mutations in the AGL gene encoding glycogen debranching enzyme have been described in many populations, including Northern European, 2 Egyptian, 3 Hispanic 2 and Asian; 2 a high prevalence of the disease was also found in the North African Jewish community (1/5400) and in the Faroe Islands (1/3600). 4,5 We previously described the presenting clinical characteristics of 4 Inuit children with putative glycogen storage disease type III and suspected the presence of a founder effect.…”

mentioning

confidence: 99%

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series

Rousseau-Nepton

Okubo

Grabs

et al. 2015

CMAJ

Self Cite

View full text Add to dashboard Cite

Results:We identified a homozygous frameshift deletion, c.4456delT, in exon 33 of the AGL gene in 2 children by whole-exome sequencing. Confirmation by Sanger sequencing showed the same mutation in all 5 patients, and 5 family members were found to be carriers. With the identification of this mutation in 5 probands, the estimated prevalence of genetically confirmed glycogen storage disease type IIIa in this region is among the highest worldwide (1:2500). Despite identical mutations, we saw variations in clinical features of the disease.Interpretation: Our detection of a homozygous frameshift mutation in 5 Inuit children determines the cause of glycogen storage disease type IIIa and confirms a founder effect. AbstractSee also research article,

show abstract

“…IVS32-12A>G mutation in AGL gene was defined in a Japanese GSD IIIb patient for the first time and studies conducted later showed the presence of very different types of mutations (2,3,4,5,6,7,8,9). Although most mutations have been reported only for once, at least four different recurrent mutations have been found in AGL gene (5,10,11,12,13).…”

Section: Introductionmentioning

confidence: 99%

Glikojen depo hastalığı tip III tanılı 10 Türk olgunun mutasyon analizleri: dört yeni mutasyonun tanımlanması

Manguoğlu¹,

Uygun²,

Özkaya³

et al. 2012

Tpa

View full text Add to dashboard Cite

Aim: AGL gene mutations are responsible for glycogen storage disease type III which is an autosomal recessive disorder. The distribution of these mutations shows a great variance in different populations. The aim of this study is to uncover the AGL gene mutation profile among Turkish patients and to contribute to the establishment of a link between these mutations and the clinical picture of the disease. Material and Method: A total of ten patients aged between two and eight years (mean age 1.7+1.1) who were diagnosed with glycogen storage disease type III by liver biopsy and enzymatic analysis from eight different families were included in this study. DNA was isolated from the peripheral blood samples of these patients and exons 6, 7, 9-18, 22, 24, 29-34 of the AGL gene were studied by DNA sequencing analysis. Results: Our study revealed two novel missense mutations p.G167V and p.Y173F , two novel intronic single base substitutions c.1284-1G>A and c.2002-2A>T and a known single base substitution p.W1327X. Numerous intronic variants were also identified. As a result of the analysis of ten patients, SNP's rs3736296, IVS12-197T>G, rs2291637, rs2035961, rs2274570, rs6692695, rs296885 were found in 1, 6, 1, 1, 1, 1, and 2 of the 10 patients, respectively. Conclusions: According to the recent literature about the AGL gene which is constituted of a total of 35 coding exons, mutations have been reported frequently in exons 3, 4, 7, 16, 21, 25, 30 and 31. This study and previous studies reveal that the majority of the mutations identified in Turkish patients so far have been detected in exon 31 of the AGL gene. In addition, the distribution of AGL gene mutations in Turkish patients reflects the genetic heterogeneity in our population. (Turk Arch Ped 2012; 47: 274-278)

show abstract

Egyptian glycogen storage disease type III – identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId

Cited by 11 publications

References 28 publications

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect

A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series

Glikojen depo hastalığı tip III tanılı 10 Türk olgunun mutasyon analizleri: dört yeni mutasyonun tanımlanması

Contact Info

Product

Resources

About