Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.

Abstract

Glycogen storage disease type III (GSD III) is a rare autosomal recessive inherited disorder caused by a deficiency of the glycogen-debranching enzyme (AGL). We investigated two GSD III patients and identified four different mutations. Nucleotide sequence analysis revealed patient 1 of Chinese descent to be a compound heterozygote for a novel nonsense mutation, R34X, and the splicing mutation (IVS32-12A > G) reported in a Japanese patient. Patient 2 of Japanese origin was found to be compound heterozygous for a novel nonsense mutation, Y1148X, and the splicing mutation (IVS14+1G > T) that we had described previously. To determine whether splicing mutations occurred independently, we performed intense AGL haplotype analysis using 21 intragenic polymorphic markers plus a novel polymorphism IVS32-97 A/G in the vicinity of the IVS32 splicing mutation. Patient 1 of Chinese origin and the Japanese patient homozygous for the IVS32-12A > G were found to have different haplotypes, indicating the IVS32-12A > G mutation to be a recurrent mutation. This is the first recurrent mutation established by intense haplotyping in the AGL gene.

• Authors: Asako Horinishi, Minoru Okubo, Nelson L S Tang, Joannie Hui, Ka-Fai To, Tomohito Mabuchi, Toshihide Okada, Hiroshi Mabuchi, Toshio Murase
• Journal: Journal of human genetics (J Hum Genet) Vol. 47 Issue 2 Pg. 55-9 ( 2002) ISSN: 1434-5161 [Print] England
• PMID: 11924557 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Glycogen Debranching Enzyme System

Topics

• Adult
• Child
• DNA Mutational Analysis
• Female
• Glycogen Debranching Enzyme System (genetics)
• Glycogen Storage Disease Type III (genetics)
• Haplotypes
• Humans
• Infant
• Introns (genetics)
• Male
• Polymorphism, Genetic