Publication details
Molecular analysis of glycogen storage disease type I.
| Authors | |
|---|---|
| Year of publication | 2007 |
| Type | Article in Proceedings |
| Conference | Sborník abstrakt 22. pracovní dny Dědičné metabolické poruchy |
| MU Faculty or unit | |
| Citation | |
| Field | Genetics and molecular biology |
| Keywords | Glykogen Storage Disease type I (GSD I); G6PT1 gene |
| Description | Glycogen storage disease type I (GSD I) comprises a group of autosomal recessive disorders of glycogen metabolism. The most common form of GSD I, GSD Ia, is caused by mutations in G6PC gene, that encodes the enzyme glucose-6-phosphatase. GSD Ib is due to deficit of the glucose-6-phosphate translocase (G6PT1 gene). This study presents the results of mutation analysis in 21 GSD I patients from 19 unrelated families (12 from Czech Republic, 6 from Slovakia and 1 from Spain). Seventeen patients were identified as a GSD Ia type. A total of 10 different mutations were found in the G6PC gene. The most common mutation, p.R83C, accounted for 50% of all GSD Ia alleles. The frequency of the second most prevalent mutations, p.Q347X, was 16%. No mutations were identified in G6PC gene in four patients. Consecutively, a mutation analysis of G6PT1 gene was performed in four G6PC negative patients. Two patients were homozygotes for the c.1042_1043delCT mutation. One patient was compound heterozygote for the c.1042_1043delCT and p.H301P mutation. The last patient was heterozygote for the c.1042_1043delCT and still In conclusion, the molecular genetic analysis presented in this study is a noninvasive, highly efficient and reliable method for the prompt diagnosis of GSD Ia and GSD Ib. It appears to be a convenient alternative to enzyme studies in liver tissue obtained by biopsy. |
| Related projects: |