MUTATION ANALYSIS IN 24 FRENCH PATIENTS WITH GLYCOGEN-STORAGE-DISEASETYPE 1A

Both alleles of 24 French glycogen storage disease type la patients we re sequenced: 14 different mutations allowed the identification of com plete genotypes for all the patients. Nine new gene alterations are re ported. Five mutations, Q347X, R83C, D38V, G188R, and 158 del C, accou nt for 75% of the mutated alleles. These data show that the molecular pathology of the glucose-6-phosphatase gene is heterogeneous in this p opulation. Complete genotyping of the index case by systematic sequenc ing is necessary to allow prenatal diagnosis in chorionic villi for at risk couples.