A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia

Jie Zhu; Yan Xing; Xuenong Xing; An Ren; Shandong Ye; Guoping He

doi:10.1016/j.gene.2012.09.020

A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia

Gene. 2012 Dec 10;511(1):122-4. doi: 10.1016/j.gene.2012.09.020. Epub 2012 Sep 18.

Authors

Jie Zhu¹, Yan Xing, Xuenong Xing, An Ren, Shandong Ye, Guoping He

Affiliation

¹ Department of Endocrinology, Anhui Provincial Hospital Affiliated to Anhui Medical University, Hefei, 230001, Anhui, China.

PMID: 23000067
DOI: 10.1016/j.gene.2012.09.020

Abstract

Mutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSD Ia). By genotype analysis of the affected pedigree, we identified a novel type mutation in a Chinese patient with GSD Ia. Mutation analysis was performed for the coding region of G6Pase gene using DNA sequencing and TaqMan gene expression assay was used to further confirm the novel mutation. The proband was compound heterozygous for c.311A>T/c.648G>T. Our report expands the spectrum of G6Pase gene mutation in China.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Substitution
Asian People / genetics
Base Sequence
DNA Mutational Analysis
DNA Primers / genetics
Glucose-6-Phosphatase / chemistry
Glucose-6-Phosphatase / genetics*
Glycogen Storage Disease Type I / enzymology*
Glycogen Storage Disease Type I / genetics*
Glycogen Storage Disease Type I / pathology
Heterozygote
Humans
Hydroxybutyrates
Indoles
Male
Mutation, Missense
RNA Splice Sites
Young Adult

Substances

4-(1-(4-fluorobenzyl)-4-hydroxy-1H-indol-3-yl)-2-hydroxy-4-oxobut-2-enoic acid
DNA Primers
Hydroxybutyrates
Indoles
RNA Splice Sites
Glucose-6-Phosphatase

Supplementary concepts

Hepatorenal form of glycogen storage disease