title: A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia.
abstract: Glycogen storage disease type Ia (GSD-Ia) is an autosomal recessive genetic disorder resulting in hypoglycemia, hepatomegaly and growth retardation. It is caused by mutations in the G6PC gene encoding Glucose-6-phosphatase. To date, over 80 mutations have been identified in the G6PC gene. Here we reported a novel mutation found in a Chinese patient with abnormal transaminases, hypoglycemia, hepatomegaly and short stature. Direct sequencing of the coding region and splicing-sites in the G6PC gene revealed a novel no-stop mutation, p.*358Yext*43, leading to a 43 amino-acid extension of G6Pase. The expression level of mutant G6Pase transcripts was only 7.8% relative to wild-type transcripts. This mutation was not found in 120 chromosomes from 60 unrelated healthy control subjects using direct sequencing, and was further confirmed by digestion with Rsa I restriction endonuclease. In conclusion, we revealed a novel no-stop mutation in this study which expands the spectrum of mutations in the G6PC gene. The molecular genetic analysis was indispensable to the diagnosis of GSD-Ia for the patient.
authors.affiliation: Department of Infectious Diseases, Institute of Infectious and Respiratory Diseases, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Sino-French Laboratory of Life Science and Genomics, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Lei-Lei
authors.initials: LL
authors.lastname: Gu
authors.affiliation: Department of Infectious Diseases, Institute of Infectious and Respiratory Diseases, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Sino-French Laboratory of Life Science and Genomics, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Xin-Hua
authors.initials: XH
authors.lastname: Li
authors.affiliation: Department of Infectious Diseases, Institute of Infectious and Respiratory Diseases, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Sino-French Laboratory of Life Science and Genomics, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Han
authors.affiliation: Department of Infectious Diseases, Institute of Infectious and Respiratory Diseases, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Sino-French Laboratory of Life Science and Genomics, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Dong-Hua
authors.initials: DH
authors.lastname: Zhang
authors.affiliation: Department of Infectious Diseases, Institute of Infectious and Respiratory Diseases, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic address: gongqm@hotmail.cm.
authors.forename: Qi-Ming
authors.initials: QM
authors.lastname: Gong
authors.affiliation: Department of Infectious Diseases, Institute of Infectious and Respiratory Diseases, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Sino-French Laboratory of Life Science and Genomics, Rui Jin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China. Electronic address: zhangx@shsmu.edu.cn.
authors.forename: Xin-Xin
authors.initials: XX
authors.lastname: Zhang
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D019556:COS Cells; D002460:Cell Line; D002648:Child; D002522:Chlorocebus aethiops / Q000235:genetics; D005260:Female; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D012326:RNA Splicing
chemical_list: D005952:Glucose-6-Phosphatase
keywords: ACE; ALT; AST; CMV; DBil; Direct sequencing; EBV; ER; Epstein–Barr virus; G6P; G6PC; G6PT; G6Pase; GGT; GSD-I; GSD-Ia; Glucose-6-phosphatase; Glycogen storage disease type Ia; HBcAg; HBsAg; HIV; PT; SNP; TBil; alanine aminotransferase; angiotensin-converting enzyme; aspartate aminotransferase; cytomegalovirus; direct bilirubin; endoplasmic reticulum; glucose-6-phosphatase; glucose-6-phosphatase, catalytic; glucose-6-phosphate; glucose-6-phosphate transporter; glycogen storage disease type I; glycogen storage disease type Ia; hepatitis B core antigen; hepatitis B surface antigen; human immunodeficiency virus; prothrombin time; single nucleotide polymorphism; total bilirubin; γ-glutamyltranspeptidase