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

J P Rake; A M ten Berge; E Verlind; G Visser; K E Niezen-Koning; C H Buys; G P Smit; H Scheffer

doi:10.1002/(sici)1098-1004(1999)13:2<173::aid-humu19>3.0.co;2-e

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

Hum Mutat. 1999;13(2):173. doi: 10.1002/(sici)1098-1004(1999)13:2<173::aid-humu19>3.0.co;2-e.

Authors

J P Rake¹, A M ten Berge, E Verlind, G Visser, K E Niezen-Koning, C H Buys, G P Smit, H Scheffer

Affiliation

¹ Department of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, The Netherlands.

PMID: 10094563
DOI: 10.1002/(sici)1098-1004(1999)13:2<173::aid-humu19>3.0.co;2-e

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.

MeSH terms

Amino Acid Substitution / genetics*
Glucose-6-Phosphatase / genetics
Glycogen Storage Disease Type I / enzymology
Glycogen Storage Disease Type I / genetics*
Humans
Mutation / genetics*
Sequence Deletion

Substances

Glucose-6-Phosphatase