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Article

Ethical implications of early genetic diagnosis in an infant with Lesch-Nyhan syndrome.

Journal of genetic counseling - 1 Dec 2022

Zhang Tian, Briere Julie M, Leeman Kristen T, Wojcik Monica H, Agrawal Pankaj B

Abstract excerpt

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...

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PMID: 35916015
DOI: 10.1002/jgc4.1616
PMCID: PMC9722620

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