Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.
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).
Trioche
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P
Service de Pédiatrie and UPRES EA 2704, H¿pital Antoine B|cl¿re (AP-HP), 92141 Clamart cedex, France.
Francoual
J
J
Chalas
J
J
Capel
L
L
Lindenbaum
A
A
Odièvre
M
M
Labrune
P
P
D000483:Alleles; D005602:France / Q000453:epidemiology; D018740:Genetic Heterogeneity; D005952:Glucose-6-Phosphatase / Q000235:genetics / Q000378:metabolism; D005953:Glycogen Storage Disease Type I / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008099:Liver / Q000201:enzymology; D009154:Mutation / Q000235:genetics; D015995:Prevalence; D017384:Sequence Deletion / Q000235:genetics
D005952:Glucose-6-Phosphatase