title: A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia.
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.
authors.affiliation: Department of Endocrinology, Anhui Provincial Hospital Affiliated to Anhui Medical University, Hefei, 230001, Anhui, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Zhu
authors.forename: Yan
authors.initials: Y
authors.lastname: Xing
authors.forename: Xuenong
authors.initials: X
authors.lastname: Xing
authors.forename: An
authors.initials: A
authors.lastname: Ren
authors.forename: Shandong
authors.initials: S
authors.lastname: Ye
authors.forename: Guoping
authors.initials: G
authors.lastname: He
mesh_terms: D019943:Amino Acid Substitution; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D005952:Glucose-6-Phosphatase / Q000737:chemistry / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D006885:Hydroxybutyrates; D007211:Indoles; D008297:Male; D020125:Mutation, Missense; D022821:RNA Splice Sites; D055815:Young Adult
chemical_list: C569032:4-(1-(4-fluorobenzyl)-4-hydroxy-1H-indol-3-yl)-2-hydroxy-4-oxobut-2-enoic acid; D017931:DNA Primers; D006885:Hydroxybutyrates; D007211:Indoles; D022821:RNA Splice Sites; D005952:Glucose-6-Phosphatase