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<p>Here we report a Chinese infant with hypophosphatasia (HPP) carrying alkaline phosphatase (ALPL) gene mutations. Genetic analysis of the patient’s ALPL gene revealed a maternally inherited canonical splice-site variant (c.997+1G&gt;T; pathogenic; PVS1 + PM2 + PP4) and a paternally inherited missense variant (c.1405C&gt;T, p.His469Tyr; reclassified as pathogenic; PP4 + PM2 + PP3). Both variants have previously been reported in gnomAD with very low frequency in Chinese infants.</p>

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Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年12月6日

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  • Wenjuan Li,
  • Shujing Zeng,
  • Jun Jiang,
  • Bin Liu

摘要

Here we report a Chinese infant with hypophosphatasia (HPP) carrying alkaline phosphatase (ALPL) gene mutations. Genetic analysis of the patient’s ALPL gene revealed a maternally inherited canonical splice-site variant (c.997+1G>T; pathogenic; PVS1 + PM2 + PP4) and a paternally inherited missense variant (c.1405C>T, p.His469Tyr; reclassified as pathogenic; PP4 + PM2 + PP3). Both variants have previously been reported in gnomAD with very low frequency in Chinese infants.