{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T08:23:54Z","timestamp":1770711834524,"version":"3.49.0"},"reference-count":12,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T00:00:00Z","timestamp":1611878400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and\/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.<\/jats:p>","DOI":"10.3390\/medicina57020123","type":"journal-article","created":{"date-parts":[[2021,1,29]],"date-time":"2021-01-29T09:25:22Z","timestamp":1611912322000},"page":"123","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A Novel Mutation of ATP7B Gene in a Case of Wilson Disease"],"prefix":"10.3390","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1957-9596","authenticated-orcid":false,"given":"Cigdem Yuce","family":"Kahraman","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Ataturk University, 25240 Erzurum, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Islek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Faculty of Medicine, Ataturk University, 25240 Erzurum, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdulgani","family":"Tatar","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine, Ataturk University, 25240 Erzurum, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5472-8174","authenticated-orcid":false,"given":"\u00d6zlem","family":"\u00d6zdemir","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology and Genetics, Faculty of Science, Erzurum Technical University University, 25250 Erzurum, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4254-6090","authenticated-orcid":false,"given":"Adil","family":"Mardinglu","sequence":"additional","affiliation":[{"name":"Centre for Host-Microbiome Interactions, Faculty of Dentistry, Oral &amp; Craniofacial Sciences, King\u2019s College London, London SE1 9RT, UK"},{"name":"Science for Life Laboratory, KTH-Royal Institute of Technology, SE-17121 Stockholm, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7046-8990","authenticated-orcid":false,"given":"Hasan","family":"Turkez","sequence":"additional","affiliation":[{"name":"Department of Medical Biology, Faculty of Medicine, Ataturk University, 25240 Erzurum, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.4103\/0366-6999.159361","article-title":"Currently Clinical Views on Genetics of Wilson\u2019s Disease","volume":"128","author":"Chen","year":"2015","journal-title":"Chin. 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