Kannu Peter, Khan Aliya A, Francis Mira, Adachi Jonathan D
University of Alberta, 8613 114 Street, Edmonton, AB T6G 1C9, Canada.
McMaster University, 1280 Main St W, Hamilton, ON L8S 4L8, Canada.
Bone Rep. 2025 Jul 15;26:101857. doi: 10.1016/j.bonr.2025.101857. eCollection 2025 Sep.
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.
家系图谱是追踪罕见遗传病（包括低磷血症（HPP））跨代遗传的有用工具。我们展示了6个受影响家系中HPP的遗传情况，描述了家庭成员中的基因变异、生化特征和临床表现。在临床实践中绘制HPP家系图谱是有必要的，以便更好地了解潜在受影响个体随时间推移的监测需求，因为HPP的表现可能在患者的整个生命周期中出现。
