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  • Title: [Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
    Author: Zhao Z, Xia WB, Xing XP, Li M, Wang O, Jiang Y, Xu LJ, Li N.
    Journal: Zhonghua Nei Ke Za Zhi; 2013 Oct; 52(10):824-8. PubMed ID: 24378058.
    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. CONCLUSION: The result suggests that the compound heterozygous mutation in ALPL is responsible for infantile hypophosphatasia in the Chinese family.
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