Work

[Clinical and genetic characteristics and follow-up of 12 children with hypophosphatasia].

Year: 2026

Type: article

Abstract: OBJECTIVES: To summarize the clinical and genetic characteristics and follow-up data of children with hypophosphatasia (HPP). METHODS: A retrospective analysis was conducted of 12 children with HPP who were treated at Shanghai Children's Medical Center between January 2018 and August 2025, including clinical features, genetic testing results, and follow-up data. RESULTS: variants were identified, six of which had not been previously reported: c.191T>A (p.Val64Asp), c.1407C>A (p.His469Gln), c.351C>G (p.Tyr117Ter), c.1007T>C (p.Ile336Thr), c.1280delins14 (p.Glu427Glyfs*), and c.181+5G>C. Seven children carried compound heterozygous variants, and five carried a single heterozygous variant. All three children with odonto-HPP carried only a single heterozygous variant. CONCLUSIONS: genetic testing should be completed promptly.

Source: PubMed Central

DOI: 10.7499/j.issn.1008-8830.2606161