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[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene]

Zhen Zhao1, Wei-bo Xia1, Xiao-ping Xing1

  • 1Department 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.

Zhonghua Nei Ke Za Zhi
|January 1, 2014
PubMed

Insights

This study details a Chinese boy with infantile hypophosphatasia, identifying compound heterozygous mutations in the ALPL gene. These genetic findings explain the rare disease presentation in this family.

Area of Science:

  • Genetics
  • Pediatrics
  • Biochemistry

Background:

  • Infantile hypophosphatasia is a rare, severe genetic disorder affecting bone mineralization.
  • It is caused by mutations in the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase.

Observation:

  • A Chinese boy presented with clinical manifestations of infantile hypophosphatasia.
  • Genetic analysis revealed compound heterozygous mutations in the ALPL gene: a missense mutation (c.814C > T, p.R272C) inherited from his father and a deletion mutation (c.1101_1103 delCTC, p.S368del) from his mother.

Findings:

  • The proband was confirmed to be a compound heterozygote for the identified ALPL mutations.
  • These mutations were absent in 50 healthy controls, supporting their pathogenic role.

Implications:

  • This case highlights the importance of genetic testing in diagnosing infantile hypophosphatasia.
  • Understanding these specific ALPL mutations contributes to the genetic landscape of this disorder in the Chinese population.
Abstract

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