Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations
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.
Authors
- Jun Jiang (ORCID: https://orcid.org/0000-0001-7723-1606)
- Bin Liu (ORCID: https://orcid.org/0000-0002-8679-5638)
- Wenjuan Li
- Shuhan Zeng
Institutions
- Affiliated Hospital of Southwest Medical University (CN)
- First Affiliated Hospital of Sichuan Medical University (CN)
- Shanghai Clinical Research Center (CN)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2025-12-06
- DOI
- https://doi.org/10.1038/s41439-025-00334-y
- Primary Topic
- Alkaline Phosphatase Research Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00