Genetic heterogeneity of glycogen storage disease type Ia in France: A study of 48 patients

• Published in: Human mutation Vol. 16; no. 5; p. 444
• Main Authors: Trioche, Pascale, Francoual, Jeanne, Chalas, Jacqueline, Capel, Liliane, Lindenbaum, Albert, Odièvre, Michel, Labrune, Philippe
• Format: Journal Article
• Language: English
• Published: New York John Wiley & Sons, Inc 01-11-2000; Hindawi Limited
• Subjects: Alleles; France - epidemiology; French; G6PC; Genetic Heterogeneity; glucose-6-phosphatase; Glucose-6-Phosphatase - genetics; Glucose-6-Phosphatase - metabolism; Glycogen Storage Disease Type I - enzymology; Glycogen Storage Disease Type I - epidemiology; Glycogen Storage Disease Type I - genetics; glycogen storage disease type Ia; Humans; Liver - enzymology; Mutation - genetics; Prevalence; Sequence Deletion - genetics; France
• ISSN: 1059-7794; 1098-1004
• DOI: 10.1002/1098-1004(200011)16:5<444::AID-HUMU10>3.0.CO;2-F

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). © 2000 Wiley‐Liss, Inc.