title: [ABCC8, KCNJ11 and GLUD1 gene mutation analysis in congenital hyperinsulinism pedigree].
abstract: OBJECTIVE
  To explore the ABCC8, KCNJ11, and GLUD1 gene mutations of the 11 patients diagnosed as congenital hyperinsulinism (CHI).
  
  
  METHODS
  A total of 11 CHI children hospitalized in Beijing Children's Hospital from November 2008 to February 2012 and their parents were chosen as the study subjects. Direct sequencing of PCR-DNA was used to analyze the 39 exons of ABCC8 gene, non-translational region and exon of KCNJ11 gene and 6, 7, 10, 11 and 12 exons of GLUD1 gene.
  
  
  RESULTS
  An P629PfsX17 heterozygous mutation of ABCC8 gene was detected in case 1 and his father, an W288X heterozygous mutation of ABCC8 gene was detected in case 4 and his father, A640V and Q1196X mutations in ABCC8 gene in case 5 whose father only carried the Q1196X mutation. In case 6 and his father, an R269H mutation was found in GLUD1 gene. The genotype of 4 children's mothers was normal. No mutations were found in other 7 patients and their parents.
  
  
  CONCLUSIONS
  The ABCC8 gene mutations are the main pathogenic mechanisms of Chinese children with CHI. In Chinese, P629PfsX17, W288X, A640V and Q1196X heterozygous mutation of ABCC8 gene and R269H heterozygous mutation of GLUD1 gene may lead to CHI. The inheritance mode of the mutations may be paternally or de novo.
authors.affiliation: Capital Medical University, Beijing, China.
authors.forename: Zi-di
authors.initials: ZD
authors.lastname: Xu
authors.forename: He-fen
authors.initials: HF
authors.lastname: Yu
authors.forename: Yan-mei
authors.initials: YM
authors.lastname: Sang
authors.forename: Yao-nan
authors.initials: YN
authors.lastname: Zhang
authors.forename: Jie
authors.initials: J
authors.lastname: Yan
authors.forename: Yu-jun
authors.initials: YJ
authors.lastname: Wu
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhu
authors.forename: Gui-chen
authors.initials: GC
authors.lastname: Ni
mesh_terms: D044903:Congenital Hyperinsulinism / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D005969:Glutamate Dehydrogenase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D064233:Sulfonylurea Receptors / Q000235:genetics*; D000099161:Kcnj11 Channel
chemical_list: D005969:Glutamate Dehydrogenase; D024661:Potassium Channels, Inwardly Rectifying; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel; C577507:ABCC8 protein, human; C561840:GLUD1 protein, human