title: [Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
abstract: OBJECTIVE
  To explore the clinical and genetic characteristics of a Chinese boy with infantile hypophosphatasia.
  
  
  METHODS
  The clinical data of the boy was carefully collected. The laboratory and radiographic examination were taken in the case. Sequencing for all the twelve ALPL exons and the flanking exon-intron junctions was performed in the proband and his parents with their genomic DNA.
  
  
  RESULTS
  Two mutations were found with one missense mutation c.814C > T (p. R272C) in the proband and his father and the other deletion mutation c.1101_1103 delCTC (p.S368del) in the proband and his mother. The proband was manifested as a compound heterozygotes of the two mutations. The mutations were not detected in fifty normal controls.
  
  
  CONCLUSIONS
  The result suggests that the compound heterozygous mutation in ALPL is responsible for infantile hypophosphatasia in the Chinese family.
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Zhao
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China. Email:xiaweibo@medmail.com.
authors.forename: Wei-bo
authors.initials: WB
authors.lastname: Xia
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.
authors.forename: Xiao-ping
authors.initials: XP
authors.lastname: Xing
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.
authors.forename: Mei
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.
authors.forename: Ou
authors.initials: O
authors.lastname: Wang
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Jiang
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.
authors.forename: Li-jun
authors.initials: LJ
authors.lastname: Xu
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, The Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing 100730, China.
authors.forename: Nan
authors.initials: N
authors.lastname: Li
mesh_terms: D000469:Alkaline Phosphatase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007014:Hypophosphatasia / Q000235:genetics*; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D000469:Alkaline Phosphatase