Multigenerational genetic inheritance and clinical characteristics of the rare disease hypophosphatasia in 6 families: A case series

IF 2.6 Q3 ENDOCRINOLOGY & METABOLISM

Bone Reports Pub Date : 2025-07-15 DOI:10.1016/j.bonr.2025.101857

Peter Kannu , Aliya A. Khan , Mira Francis , Jonathan D. Adachi

引用次数: 0

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.

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6家系罕见疾病磷酸酶减退症的多代遗传及临床特征

家族图谱是一种有用的工具，用于追踪罕见遗传性疾病的遗传，包括低磷血症（HPP），通过代。我们展示了HPP在6个受影响家族中的遗传，描述了家族成员的遗传变异、生化特征和临床表现。在临床实践中，绘制HPP的家庭图是必要的，以便更好地了解随着时间的推移对潜在受影响个体的监测需求，因为HPP的表现可能在患者的整个生命周期中出现。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Bone Reports Medicine-Orthopedics and Sports Medicine

CiteScore

4.30

自引率

4.00%

发文量

444

审稿时长

57 days

期刊介绍： Bone Reports is an interdisciplinary forum for the rapid publication of Original Research Articles and Case Reports across basic, translational and clinical aspects of bone and mineral metabolism. The journal publishes papers that are scientifically sound, with the peer review process focused principally on verifying sound methodologies, and correct data analysis and interpretation. We welcome studies either replicating or failing to replicate a previous study, and null findings. We fulfil a critical and current need to enhance research by publishing reproducibility studies and null findings.