{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T14:01:06Z","timestamp":1760623266051,"version":"3.40.5"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,8,2]],"date-time":"2022-08-02T00:00:00Z","timestamp":1659398400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003653","name":"Korea National Institute of Health","doi-asserted-by":"publisher","award":["K23HD102589"],"award-info":[{"award-number":["K23HD102589"]}],"id":[{"id":"10.13039\/501100003653","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in <jats:italic>HPRT1<\/jats:italic> lead to deficiency in hypoxanthine\u2010guanine phosphoribosyltransferase and are responsible for a spectrum of disorders. The severe phenotype is termed Lesch\u2013Nyhan syndrome (LNS) and is inherited in an X\u2010linked recessive manner. Most individuals with LNS have profound intellectual and physical disabilities throughout life including self\u2010mutilating behaviors. Here, we present the case of a male infant who was diagnosed with LNS at 3\u2009weeks of age via rapid exome sequencing (ES), which revealed a hemizygous maternally inherited deletion of at least 1.3\u00a0Mb of Xq26.3, including exons 2 to 9 of <jats:italic>HPRT1<\/jats:italic>. We discuss the critical time points leading to this diagnosis while highlighting his parents' values that guided the decision\u2010making. 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 of discussing rare genetic diagnoses with families and facilitating critical discussions to empower the family toward making an informed decision.<\/jats:p>","DOI":"10.1002\/jgc4.1616","type":"journal-article","created":{"date-parts":[[2022,8,2]],"date-time":"2022-08-02T07:33:31Z","timestamp":1659425611000},"page":"1434-1437","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Ethical implications of early genetic diagnosis in an infant with <scp>Lesch\u2013Nyhan<\/scp> syndrome"],"prefix":"10.1002","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6827-9998","authenticated-orcid":false,"given":"Tian","family":"Zhang","sequence":"first","affiliation":[{"name":"Division of Newborn Medicine, Department of Pediatrics Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie M.","family":"Briere","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine, Department of Pediatrics Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristen T.","family":"Leeman","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine, Department of Pediatrics Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8162-5031","authenticated-orcid":false,"given":"Monica H.","family":"Wojcik","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine, Department of Pediatrics Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"},{"name":"Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital and Harvard Medical School  Boston Massachusetts USA"},{"name":"The Manton Center for Orphan Disease Research Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pankaj B.","family":"Agrawal","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine, Department of Pediatrics Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"},{"name":"Division of Genetics and Genomics, Department of Pediatrics Boston Children's Hospital and Harvard Medical School  Boston Massachusetts USA"},{"name":"The Manton Center for Orphan Disease Research Boston Children's Hospital  Boston Massachusetts USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,8,2]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_8_2_1","DOI":"10.1542\/peds.106.2.351"},{"doi-asserted-by":"publisher","key":"e_1_2_8_3_1","DOI":"10.1007\/BF02172213"},{"doi-asserted-by":"publisher","key":"e_1_2_8_4_1","DOI":"10.1016\/s0027\u20105107(01)00065\u20103"},{"doi-asserted-by":"publisher","key":"e_1_2_8_5_1","DOI":"10.1038\/s41436\u2010019\u20100708\u20106"},{"volume-title":"GeneReviews\u00ae","year":"2000","author":"Jinnah 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