Zhen Zhao1, Wei-bo Xia2, Xiao-ping Xing1, Mei Li1, Ou Wang1, Yan Jiang1, Li-jun Xu1, Nan Li1. 1. 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. 2. 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.
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.
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.