Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 40746945.
- Also identified by DOI 10.1016/j.bonr.2025.101857 and PMC identifier 12311441.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Family mapping is a useful tool for tracking the inheritance of rare inherited diseases, including hypophosphatasia (HPP), through generations. We show the inheritance of HPP in 6 affected families, describing genetic variants, biochemical hallmarks, and clinical manifestations among family members. Mapping families with HPP is warranted in clinical practice to better understand monitoring needs for potentially affected individuals over time, since manifestations of HPP can arise throughout a patient's lifespan.