title: Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations.
abstract: OBJECTIVE
  We sought to understand the clinical course and molecular defects of infantile-onset Pompe disease (IOPD) among mainland Chinese patients.
  
  
  METHODS
  Twenty-five Chinese patients with IOPD were enrolled and clinical data were retrospectively reviewed. The entire coding region of the GAA gene was amplified by polymerase chain reaction and analyzed by direct sequencing.
  
  
  RESULTS
  The median age at symptom onset was 3.4 months (range: 1.0-7.1 months) and 4.9 months (range: 2.7-8.3 months) at diagnosis. Only one patient received enzyme replacement therapy (ERT) and this child survived beyond the age of 2 years. Of the 24 patients not receiving ERT, all, but one patient, died at a median age of 8.3 months (range: 4.0-12.2 months). Thirteen novel and two common GAA mutations were identified in this study. The allelic frequency of c.2662G > T (p.Glu888X) was 23.1% in northern Chinese patients and 4.2% in southern Chinese patients, whereas the allelic frequency of c.1935C > A (p.Asp645Glu) was 20.8% in southern and 3.8% in northern Chinese patients.
  
  
  CONCLUSIONS
  We identified the most common mutations in southern and northern Chinese patients with IOPD.
authors.affiliation: 1 Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine , Shanghai, China .
authors.forename: Xi
authors.initials: X
authors.lastname: Chen
authors.affiliation: 1 Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine , Shanghai, China .
authors.forename: Tingliang
authors.initials: T
authors.lastname: Liu
authors.affiliation: 1 Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine , Shanghai, China .
authors.forename: Meirong
authors.initials: M
authors.lastname: Huang
authors.affiliation: 1 Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine , Shanghai, China .
authors.forename: Jinjin
authors.initials: J
authors.lastname: Wu
authors.affiliation: 1 Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine , Shanghai, China .
authors.forename: Junxue
authors.initials: J
authors.lastname: Zhu
authors.affiliation: 1 Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine , Shanghai, China .
authors.forename: Ying
authors.initials: Y
authors.lastname: Guo
authors.affiliation: 1 Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine , Shanghai, China .
authors.forename: Xinyi
authors.initials: X
authors.lastname: Xu
authors.affiliation: 1 Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine , Shanghai, China .
authors.forename: Fen
authors.initials: F
authors.lastname: Li
authors.affiliation: 2 Research Division of Birth Defects, Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine , Shanghai, China .
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.affiliation: 1 Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine , Shanghai, China .|3 Research Division of Cardiovascular Disease, Institute of Pediatric Translational Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine , Shanghai, China .
authors.forename: Lijun
authors.initials: L
authors.lastname: Fu
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D002681:China; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006009:Glycogen Storage Disease Type II / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D000520:alpha-Glucosidases / Q000235:genetics* / Q000378:metabolism
chemical_list: C509951:GAA protein, human; D000520:alpha-Glucosidases
keywords: Pompe disease; acid α-glucosidase; glycogen storage disease type II; lysosomal storage disease; mutation analysis