title: [Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].
abstract: OBJECTIVE
  Glycogen storage disease type Ib (GSDIb) is caused by a deficiency of glucose-6-phosphate translocase (G6PT) activity due to SLC37A4 gene mutations. Most GSDIb patients have recurrent infections and inflammatory bowel disease, with poor prognosis. Detection of SLC37A4 gene mutations is of great significance for the diagnosis, subtyping and outcome prediction of GSD patients. This study aims to analyze SLC37A4 gene mutations in Chinese GSDIb patients and to investigate the relationship between its genotypes and clinical manifestations.
  
  
  METHODS
  All exons and their flanking introns of SLC37A4 gene in 28 Chinese children with a primary diagnosis of GSDIb were screened by PCR combined with direct DNA sequencing to detect SLC37A4 gene mutations.
  
  
  RESULTS
  Five SLC37A4 gene mutations were detected in 7 (25%) of the 28 children, i.e., p.Gly149Glu (9/13, 69%), p.Gly115Arg (1/13, 8%), p.Pro191Leu (1/13, 8%), c.959-960 insT (1/13, 8%) and c.870+5G>A (1/13, 8%).
  
  
  CONCLUSIONS
  In this study, c.959-960 insT is a novel mutation and p.Gly149Glu is the most common mutation. p.Gly149Glu may be associated with severe infections in children with GSDIb.
authors: Department of Endocrinology and Metabolism, Guangzhou Women and Children's Medical Center, Guangzhou Medical College, Guangzhou 510623, China. liliuxia@hotmail.com.
authors: Cui-Li
authors: CL
authors: Liang
authors: Li
authors: L
authors: Liu
authors: Hui-Ying
authors: HY
authors: Sheng
authors: Min-Yan
authors: MY
authors: Jiang
authors: Xi
authors: X
authors: Yin
authors: Hui-Fen
authors: HF
authors: Mei
authors: Jing
authors: J
authors: Cheng
authors: Wen
authors: W
authors: Zhang
authors: Li-Ping
authors: LP
authors: Fan
mesh_terms: D017920:Antiporters / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000150:complications / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009004:Monosaccharide Transport Proteins / Q000235:genetics*; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: D017920:Antiporters; D009004:Monosaccharide Transport Proteins; C503531:SLC37A4 protein, human