Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online

Authors :: Rake, J P
ten Berge, A M
Verlind, E
Visser, G
Niezen-Koning, K E
Buys, C H
Smit, G P
Scheffer, H
Center for Liver, Digestive and Metabolic Diseases (CLDM)
Source :: Human Mutation, 13(2). Wiley
Publication Year :: 1999
Abstract: Deficient activity of glucose-6-phosphatase (G6Pase) causes glycogen storage disease type Ia (GSD Ia). We analysed the G6Pase gene of 16 GSD Ia patients using single strand conformation polymorphism (SSCP) analysis prior to automated sequencing of exon(s) revealing an aberrant SSCP pattern. In all GSD Ia patients we were able to identify mutations on both alleles of the G6Pase gene, indicating that this method is a reliable procedure to identify mutations. Four novel mutations (175delGG, R170X, G266V and V338F) were identified.

Subjects :: congenital, hereditary, and neonatal diseases and abnormalities
Amino Acid Substitution
Mutation
Glucose-6-Phosphatase
nutritional and metabolic diseases
Humans
Glycogen Storage Disease Type I
Sequence Deletion

Tools