title: Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia.
abstract: Glycogen storage disease type‑Ia (GSD‑Ia) is a rare autosomal recessive disease caused by a mutation in the gene encoding glucose‑6‑phosphate‑α (G6PC). The present study reported the case of a 3‑month‑old female Chinese patient with GSD‑Ia born to consanguineous parents. The aim of the present study was to identify the precise mutation of the G6PC gene associated with this family and to describe the phenotypic characteristics of the patient. A comprehensive examination was performed on the patient, including physical examination, vein blood gas analysis, abdominal sonography and biochemical analyses. In addition, gene sequencing was performed on the coding region of the G6PC gene to identify the mutation. The patient was diagnosed with GSD‑Ia and a G6PC missense mutation of c.518T>C (p.L173P) located in a highly conserved area was identified. The mutation is in a non‑helical region of the protein, which previous studies have suggested should result in a lesser effect on G6PC enzymatic activity and milder phenotypic characteristics compared with mutations located in helical regions. However, the severity of the disease phenotype in the subject of the present study was inconsistent with that predicted from her genotype. The patient suffered from serious hypoglycemia, lactic acidosis, increased triglycerides, hepatic dysfunction, clear hepatomegaly and nephromegaly. The incidence of the p.L173P mutation may be relatively high in the Chinese population. Knowledge of the various phenotypic presentations of the p.L173P mutation may beneficial for future investigations.
authors: Department of Pediatrics, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.
authors: Yili
authors: Y
authors: Lu
authors: College of Basic Medical Sciences, Capital Medical University, Beijing 100069, P.R. China.
authors: Liyin
authors: L
authors: Wang
authors: Department of Hand Surgery, Wenzhou Donghua Hospital, Wenzhou, Zhejiang 325027, P.R. China.
authors: Jun
authors: J
authors: Li
authors: Department of Pediatrics, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.
authors: Beibei
authors: B
authors: Wu
authors: Department of Pediatrics, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.
authors: Huiping
authors: H
authors: Wu
authors: Department of Pediatrics, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.
authors: Yue
authors: Y
authors: Luo
authors: Division of Ophthalmic Genetics, Laboratory for Stem Cell and Retinal Regeneration, The Eye Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.
authors: Zi-Bing
authors: ZB
authors: Jin
authors: Department of Pediatrics, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.
authors: Xiaoou
authors: X
authors: Shan
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D003241:Consanguinity; D005260:Female; D005838:Genotype; D005952:Glucose-6-Phosphatase / Q000235:genetics*; D005953:Glycogen Storage Disease Type I / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype
chemical_list: D005952:Glucose-6-Phosphatase