文章基本信息

标题：Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management
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作者：Erin Huggins ; Ricardo Ong ; Cheryl Rockman-Greenberg 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2020
卷号：25
页码：100661
DOI：10.1016/j.ymgmr.2020.100661
出版社：Elsevier B.V.
摘要：Hypophosphatasia (HPP) is an inherited metabolic condition caused by pathogenic mutations in the ALPL gene. This leads to deficiency of tissue non-specific alkaline phosphatase (TNSALP), resulting in decreased mineralization of the bones and/or teeth and multi-systemic complications. Inheritance may be autosomal dominant or recessive, and the phenotypic spectrum, including age of onset, varies widely. We present four families demonstrating both modes of inheritance of HPP and phenotypic variability and discuss the resultant challenges in disease management, genetic counseling, and risk assessment. Failure to consider different modes of inheritance in a family with HPP may lead to an inaccurate risk assessment upon which medical and reproductive decisions may be made. We highlight the essential role of high-quality genetic counseling and meaningful biochemical and molecular testing strategies in the evaluation and management of families with HPP.
关键词：Hypophosphatasia ; Alkaline phosphatase ; Family history ; Genetic counseling ; ALPL gene ; Dominant inheritance ; Recessive inheritance