Identification of a Novel Compound Heterozygous Variant in the <i>ALPL</i> Gene Linked to Hypophosphatasia in a Chinese Family
The compound heterozygous variant comprised of c.269A > G and c.182-9C > T in the ALPL gene may contribute to decreased ALP activity and the disease phenotype of the proband. Moreover, an experienced multidisciplinary team needs to monitor the effect of DNE on carriers and track the relevant clinical symptoms emerging at a later stage.
Authors
- Qinyu Liu (ORCID: https://orcid.org/0000-0002-3147-8512)
- Rongmei Lu (ORCID: https://orcid.org/0009-0009-8519-7140)
- Zhen Yu
- Junping Wen (ORCID: https://orcid.org/0000-0002-5650-5281)
- Chuhui Chen
- Gang Chen (ORCID: https://orcid.org/0000-0002-8105-2384)
Institutions
- Fujian Medical University (CN)
- Fujian Provincial Hospital (CN)
- Fujian Academy of Medical Sciences (CN)
- Fuzhou University (CN)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-07-01
- DOI
- https://doi.org/10.1210/clinem/dgaf381
- Citations
- 1
- Primary Topic
- Alkaline Phosphatase Research Studies
- Type
- article
- Field-Weighted Citation Impact
- 1.29
Funders
- National Natural Science Foundation of China
- Natural Science Foundation of Fujian Province