Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.
Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.
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DOI：
10.1016/j.ymgmr.2020.100661
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发表时间：
2020-12
影响因子：
1.9
通讯作者：
Kishnani PS
中科院分区：
文献类型：
--
作者：
Huggins E;Ong R;Rockman-Greenberg C;Flueckinger LB;Dahir KM;Kishnani PS
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.
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影响因子：
4.1
作者：
Berkseth, Kathryn E.;Tebben, Peter J.;Wermers, Robert A.
通讯作者：
Wermers, Robert A.
影响因子：
--
作者：
Fauvert, Delphine;Brun-Heath, Isabelle;Mornet, Etienne
通讯作者：
Mornet, Etienne
影响因子：
1.9
作者：
Mornet, Etienne;Yvard, Alice;Simon-Bouy, Brigitte
通讯作者：
Simon-Bouy, Brigitte
DOI：
10.1007/8904_2013_224
发表时间：
2013-01-01
期刊：
JIMD REPORTS, VOL 11
影响因子：
--
作者：
Leung, Edward C. W.;Mhanni, Aizeddin A.;Greenberg, Cheryl R.
通讯作者：
Greenberg, Cheryl R.
影响因子：
3.9
作者：
del Angel, Guillermo;Reynders, John;Mornet, Etienne
通讯作者：
Mornet, Etienne