title: [Analysis of ornithine transcarbamylase gene mutations in three boys affected with late-onset ornithine transcarbamylase deficiency].
abstract: OBJECTIVE
  To identify the types of OTC gene mutations in three male patients with late onset ornithine transcarbamylase deficiency (OTCD, MIM #311250).
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood leukocytes. The 10 exons and their flanking sequences of the OTC gene were amplified with polymerase chain reaction and subjected to direct DNA sequencing.
  
  
  RESULTS
  Based on DNA sequence analysis, all of the three patients have carried OTC gene mutations. Patients 1 and 2 were both hemizygous for mutation c.586G> A(p.D196N). A novel mutation c.800G> C(p.S267T) were confirmed in patient 3.
  
  
  CONCLUSIONS
  p.S267T mutation has affected the conserved amino acid motif of the OTC protein, and is therefore a pathogenic mutation.
authors.affiliation: Department of Endocrinology, Dongguan People's Hospital, Dongguan, Guangdong 523059, P.R.China. wenpq@outlook.com.
authors.forename: Zhanling
authors.initials: Z
authors.lastname: Chen
authors.forename: Pengqiang
authors.initials: P
authors.lastname: Wen
authors.forename: Guobing
authors.initials: G
authors.lastname: Wang
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Liu
authors.forename: Li
authors.initials: L
authors.lastname: Chen
authors.forename: Shuli
authors.initials: S
authors.lastname: Chen
authors.forename: Lisheng
authors.initials: L
authors.lastname: Wan
authors.forename: Dong
authors.initials: D
authors.lastname: Cui
authors.forename: Yue
authors.initials: Y
authors.lastname: Shang
authors.forename: Chengrong
authors.initials: C
authors.lastname: Li
mesh_terms: D017668:Age of Onset; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000453:epidemiology* / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid
chemical_list: D009954:Ornithine Carbamoyltransferase