High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia

Cherif, Wafa; Rhouma, Faten Ben; Messai, Habib; Mili, Ali; Gribaa, Moez; Kéfi, Rym; Ayadi, A.; Boughamoura, Lamia; Chemli, J.; Saâd, Ali; Kaabachi, Naziha; Sfar, Mohamed Tahar; Dridi, Marie-Françoise Ben; Tebib, Néji; Abdelhak, Sonia

doi:10.1684/abc.2012.0766

Cited by 5 publications

(3 citation statements)

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“…Mutations with a certain regional pattern are homozygous in affected individuals and have been described in Inuit children from the Eastern region of the Hudson bay and in Jews of North-African origin (c.4555delT) [ 12 , 16 ], in inhabitants of the Faroe islands (c.1222C>T; p.R408 ∗ ) [ 17 ] and in Tunisian patients: c.3216_3217delGA [ 18 ] and p.W1327 ∗ [ 19 ]. These findings are explained by a “founder effect” and are responsible for a high prevalence of the disease in these areas: 1/5,420 in North-African Jews, 1/3,600 in the inhabitants of the Faroe islands, and 1/2,500 in Inuits versus 1/100,000 in North-America [ 17 , 18 ].…”

Section: Discussionmentioning

confidence: 99%

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

Zimmermann

Rossmann

Bucerzan³

et al. 2016

Case Reports in Genetics

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Background. Glycogen storage disease type III (GSDIII) is a rare metabolic disorder with autosomal recessive inheritance, caused by deficiency of the glycogen debranching enzyme. There is a high phenotypic variability due to different mutations in the AGL gene. Methods and Results. We describe a 2.3-year-old boy from a nonconsanguineous Romanian family, who presented with severe hepatomegaly with fibrosis, mild muscle weakness, cardiomyopathy, ketotic fasting hypoglycemia, increased transaminases, creatine phosphokinase, and combined hyperlipoproteinemia. GSD type IIIa was suspected. Accordingly, genomic DNA of the index patient was analyzed by next generation sequencing of the AGL gene. For confirmation of the two mutations found, genetic analysis of the parents and grandparents was also performed. The patient was compound heterozygous for the novel mutation c.3235C>T, p.Gln1079⁎ (exon 24) and the known mutation c.1589C>G, p.Ser530⁎ (exon 12). c.3235 >T, p.Gln1079⁎ was inherited from the father, who inherited it from his mother. c.1589C>G, p.Ser530⁎ was inherited from the mother, who inherited it from her father. Conclusion. We report the first genetically confirmed case of a Romanian patient with GSDIIIa. We detected a compound heterozygous genotype with a novel mutation, in the context of a severe hepatopathy and an early onset of cardiomyopathy.

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Section: Discussionmentioning

confidence: 99%

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

Zimmermann

Rossmann

Bucerzan³

et al. 2016

Case Reports in Genetics

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“…9 Molecular analysis techniques were detailed elsewhere. [10][11][12] Nine mutations were identified in 21 patients from 18 families (►Table 1).…”

Section: Methodsmentioning

confidence: 99%

“…The high frequency of severe NMI in our series could be explained by a selection bias toward severe patients from the referral center. It could be also due to more deleterious mutations of AGL gene in Tunisian population [10][11][12]31 abolishing AGL activity, as demonstrated by the null enzymatic activity in all the patients explored.…”

Section: Clinical Descriptionmentioning

confidence: 99%

Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients

et al. 2018

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Background Our aim was to describe the natural history of neuromuscular involvement (NMI) in glycogen storage disease type III (GSDIII). Methods We conducted a longitudinal study of 50 Tunisian patients, 9.87 years old in average. Results NMI was diagnosed at an average age of 2.66 years and was clinically overt in 85% of patients. Patients with clinical features were older (p = 0.001). Complaints were dominated by exercise intolerance (80%), noticed at 5.33 years in average. Physical signs, observed at 6.75 years in average, were dominated by muscle weakness (62%). Functional impairment was observed in 64% of patients, without any link with age (p = 0.255). Among 33 patients, 7 improved. Creatine kinase (CK) and aspartate aminotransferase (AST) levels were higher with age.Electrophysiological abnormalities, diagnosed in average at 6.5 years, were more frequent after the first decade (p = 0.0005). Myogenic pattern was predominant (42%). Nerve conduction velocities were slow in two patients. Lower caloric intake was associated with more frequent clinical and electrophysiological features. Higher protein intake was related to fewer complaints and physical anomalies. Conclusion Neuromuscular investigation is warranted even in asymptomatic patients, as early as the diagnosis of GSDIII is suspected. Muscle involvement can be disabling even in children. Favorable evolution is possible in case of optimal diet.

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Specific Aspects of Consanguinity: Some Examples from the Tunisian Population

et al. 2014

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Located at the cross-road between Europe and Africa, Tunisia is a North African country of 11 million inhabitants. Throughout its history, it has been invaded by different ethnic groups. These historical events, and consanguinity, have impacted on the spectrum and frequency of genetic diseases in Tunisia. Investigations of Tunisian families have significantly contributed to elucidation of the genetic bases of rare disorders, providing an invaluable resource of cases due to particular familial structures (large family size, consanguinity and share of common ancestors). In the present study, we report on and review different aspects of consanguinity in the Tunisian population as a case study, representing several features common to neighboring or historically related countries in North Africa and the Middle East. Despite the educational, demographic and behavioral changes that have taken place during the last four decades, familial and geographical endogamy still exist at high frequencies, especially in rural areas. The health implications of consanguinity in Tunisian families include an increased risk of the expression of autosomal recessive diseases and particular phenotypic expressions. With new sequencing technologies, the investigation of consanguineous populations provides a unique opportunity to better evaluate the impact of consanguinity on the genome dynamic and on health, in addition to a better understanding of the genetic bases of diseases.

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High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia

Cited by 5 publications

References 0 publications

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa

Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients

Specific Aspects of Consanguinity: Some Examples from the Tunisian Population

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