Mutation analysis in 24 French patients with glycogen storage disease type la

Abstract

Abstract Both alleles of 24 French glycogen storage disease type la patients were sequenced: 14 different mutations allowed the iden-tification of complete genotypes for all the patients. Nine new gene alterations are reported. Five mutations, Q347X, R83C, D38V, G1SSR, and 158 del C, account for 75% of the mutated alleles. These data show that the molecular pathology of the glucose-6-phosphatasc gene is hetero-geneous in this population. Complete genotyping of the index case by system-atic sequencing is necessary to allow prenatal diagnosis in chorionic viii for at risk couples.