Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients |
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Authors: | Trioche P Francoual J Chalas J Capel L Lindenbaum A Odièvre M Labrune P |
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Institution: | Service de Pédiatrie and UPRES EA 2704, H?pital Antoine B|cl?re (AP-HP), 92141 Clamart cedex, France. |
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Abstract: | Forty-eight patients with glycogen storage disease type Ia (GSD Ia) were studied. Using a combination of single-strand conformation polymorphism (SSCP) analysis, restriction enzyme digestion and direct sequencing, we were able to identify 93/96 mutant alleles, comprising 23 different mutations in the glucose-6-phosphatase gene (G6PC). Among these, 7 are novel mutations of G6PC: M5R, T111I, A241T, C270R, F322L, and two deletions, 793delG and 872delC, resulting in the same mutation at the amino acid level, fs300Ter (300X). |
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