Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome.
Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome.
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DOI：
10.1002/jgc4.1616
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发表时间：
2022-12
影响因子：
1.9
通讯作者：
Agrawal, Pankaj B.
中科院分区：
文献类型：
--
作者：
Zhang, Tian;Briere, Julie M.;Leeman, Kristen T.;Wojcik, Monica H.;Agrawal, Pankaj B.
Pathogenic variants in HPRT1 lead to deficiency in hypoxanthine-guanine phosphoribosyltransferase and are responsible for a spectrum of disorders. The severe phenotype is termed Lesch-Nyhan syndrome (LNS) and is inherited in an X-linked recessive manner. Most individuals with LNS have profound intellectual and physical disabilities throughout life including self-mutilating behaviors. Here we present the case of a male infant who was diagnosed with LNS at three weeks of age via rapid exome sequencing (ES), which revealed a hemizygous maternally-inherited deletion of at least 1.3Mb of Xq26.3, including exons 2 to 9 of HPRT1. We discuss the critical time points leading to this diagnosis while highlighting his parents’ values that guided the decision making. Genetic testing provided an early diagnosis for this infant that led to important considerations regarding goals of care in addition to raising new ethical concerns. This highlights the important role that early and rapid diagnostic genetic testing can play in helping families make difficult decisions. Additionally, this case highlights the complexity in discussing rare genetic diagnoses with families and facilitating critical discussions to empower the family towards making an informed decision.
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影响因子：
2.2
作者：
Wiegand, Debra L.;MacMillan, Julia;Bousso, Regina Szylit
通讯作者：
Bousso, Regina Szylit
影响因子：
5.9
作者：
LESCH, M;NYHAN, WL
通讯作者：
NYHAN, WL
DOI：
10.1016/s0027-5107(01)00065-3
发表时间：
2001-05-09
影响因子：
2.3
作者：
Brooks, EM;Branda, RF;O'Neill, JP
通讯作者：
O'Neill, JP
DOI：
10.1111/jppi.12298
发表时间：
2019-06-01
影响因子：
1.7
作者：
Reinders, Johannes;Stainton, Tim;Parmenter, Trevor R.
通讯作者：
Parmenter, Trevor R.
影响因子：
8.8
作者：
Gubbels, Cynthia S.;VanNoy, Grace E.;Yu, Timothy W.
通讯作者：
Yu, Timothy W.