[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhonghua Nei Ke Za Zhi
; 52(10): 824-8, 2013 Oct.
Article
em Zh
| MEDLINE
| ID: mdl-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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Base de dados:
MEDLINE
Assunto principal:
Fosfatase Alcalina
/
Hipofosfatasia
/
Mutação
Limite:
Humans
/
Infant
/
Male
Idioma:
Zh
Ano de publicação:
2013
Tipo de documento:
Article