title: [Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].
abstract: OBJECTIVE
  To investigate the clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa (GSD IIIa).
  
  
  METHODS
  Clinical data for diagnosis, treatment and follow-up of a sick child with GSD III was collected and analyzed. Genomic DNA was extracted from the peripheral blood samples from the patient and his parents. Polymerase chain reaction and direct DNA sequencing were utilized to analyze all of the exons of the AGL gene.
  
  
  RESULTS
  The genotype of the child was found to be c.3710_3711delTA/IVS14+1G>T. The former was a maternally-inherited mutation, which has not been reported previously. The latter was an abnormal splice-site mutation inherited from the father.
  
  
  CONCLUSIONS
  Based on its clinical and molecular evidences, the patient was diagnosed as GSD IIIa in conjunction with retrobular optic neuritis.
authors.affiliation: Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, P. R. China. songyuanzong@vip.tom.com.
authors.forename: Li
authors.initials: L
authors.lastname: Guo
authors.forename: Weixia
authors.initials: W
authors.lastname: Lin
authors.forename: Zhanhui
authors.initials: Z
authors.lastname: Zhang
authors.forename: Xinjing
authors.initials: X
authors.lastname: Zhao
authors.forename: Sui
authors.initials: S
authors.lastname: Zhang
authors.forename: Xiangran
authors.initials: X
authors.lastname: Cai
authors.forename: Qing
authors.initials: Q
authors.lastname: Zhou
authors.forename: Yuanzong
authors.initials: Y
authors.lastname: Song
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002675:Child, Preschool; D002681:China; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000235:genetics* / Q000378:metabolism; D006010:Glycogen Storage Disease Type III / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation
chemical_list: D006004:Glycogen Debranching Enzyme System; C030563:amylo-1,6-glucosidase