{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T14:10:10Z","timestamp":1755785410780,"version":"3.44.0"},"reference-count":18,"publisher":"SMC Media","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>We report the case of a 70-year-old man diagnosed with late-onset Wilson disease (WD) with mild neurological symptoms only and a new mutation in the ATP7B gene. A compound mutation of the ATP7B gene was found with the variant c.98T&gt;C p(Met33Thr) in exon 2, in heterozygosis, and variant c.2224G&gt;A (Val742Ile) in exon 8, in heterozygosis. Patient age should not be a determinant for excluding WD. Genetic sequencing is an important tool for the discovery of new genetic mutations.<\/jats:p>","DOI":"10.12890\/2022_003655","type":"journal-article","created":{"date-parts":[[2022,12,1]],"date-time":"2022-12-01T03:36:35Z","timestamp":1669865795000},"source":"Crossref","is-referenced-by-count":0,"title":["New ATP7B Gene Mutation in a Brazilian Patient with Wilson Disease"],"prefix":"10.12890","volume":"9","author":[{"given":"Marcus","family":"Villander Barros de Oliveira S\u00e1","sequence":"first","affiliation":[{"name":"Real Cl\u00ednica M\u00e9dica; Real Hospital Portugu\u00eas de Benefic\u00eancia em Pernambuco, Recife, Brazil; Instituto Aggeu Magalh\u00e3es \u2013 Funda\u00e7\u00e3o Oswaldo Cruz, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Flavio Jos\u00e9","family":"Siqueira Pacheco","sequence":"first","affiliation":[{"name":"Real Cl\u00ednica M\u00e9dica; Real Hospital Portugu\u00eas de Benefic\u00eancia em Pernambuco, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge Luiz","family":"Carvalho Figueredo","sequence":"first","affiliation":[{"name":"Real Cl\u00ednica M\u00e9dica; Real Hospital Portugu\u00eas de Benefic\u00eancia em Pernambuco, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gustavo Henrique","family":"de S\u00e1 Miranda Cavancante Filho","sequence":"first","affiliation":[{"name":"Real Cl\u00ednica M\u00e9dica; Real Hospital Portugu\u00eas de Benefic\u00eancia em Pernambuco, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thiago","family":"de Oliveira Silva","sequence":"first","affiliation":[{"name":"Real Cl\u00ednica M\u00e9dica; Real Hospital Portugu\u00eas de Benefic\u00eancia em Pernambuco, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luydson Richardson","family":"Vasconcelos Silva","sequence":"first","affiliation":[{"name":"Instituto Aggeu Magalh\u00e3es \u2013 Funda\u00e7\u00e3o Oswaldo Cruz, Recife, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10397","published-online":{"date-parts":[[2022,12,1]]},"reference":[{"key":"10.12890\/2022_003655_ref1","doi-asserted-by":"crossref","unstructured":"<li>Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, et al. 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EASL Clinical Practice Guidelines: Wilson\u2019s disease. <em>J Hepatol<\/em> 2012;<strong>56<\/strong>:671\u2013685.<\/li>"},{"key":"10.12890\/2022_003655_ref8","doi-asserted-by":"crossref","unstructured":"<li>Kulkarni A, Sharma VK. Wilson\u2019s disease. Int Encycl Public Heal 2016;6:424\u2013433.<\/li>","DOI":"10.1016\/B978-0-12-803678-5.00495-1"},{"key":"10.12890\/2022_003655_ref9","doi-asserted-by":"crossref","unstructured":"<li>Czlonkowska A, Rodo M, Gromadzka G. Late onset Wilson\u2019s disease: therapeutic implications. <em>Mov Disord<\/em> 2008;<strong>23<\/strong>:897\u2013899.<\/li>","DOI":"10.1002\/mds.21985"},{"key":"10.12890\/2022_003655_ref10","doi-asserted-by":"crossref","unstructured":"<li>Ala A, Borjigin J, Rochwarger A, Schilsky M. Wilson disease in septuagenarian siblings: raising the bar for diagnosis. <em>Hepatology<\/em> 2005;<strong>41<\/strong>:668\u2013670.<\/li>","DOI":"10.1002\/hep.20601"},{"key":"10.12890\/2022_003655_ref11","doi-asserted-by":"crossref","unstructured":"<li>Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. The Wilson disease gene: spectrum of mutations and their consequences. <em>Nat Genet<\/em> 1995;<strong>9<\/strong>:210\u2013217.<\/li>","DOI":"10.1038\/ng0295-210"},{"key":"10.12890\/2022_003655_ref12","doi-asserted-by":"crossref","unstructured":"<li>Ljubic H, Kalauz M, Telarovic S, Ferenci P, Ostojic R, Noli MC, et al. ATP7B gene mutations in Croatian patients with Wilson disease. <em>Genet Test Mol Biomarkers<\/em> 2016;<strong>20<\/strong>:112\u2013117.<\/li>","DOI":"10.1089\/gtmb.2015.0213"},{"key":"10.12890\/2022_003655_ref13","doi-asserted-by":"crossref","unstructured":"<li>Lee BH, Kim JH, Lee SY, Jin HY, Kim KJ, Lee JJ, et al. Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson\u2019s disease cohort.<em>Liver Int<\/em> 2011;<strong>31<\/strong>:833\u2013841.<\/li>","DOI":"10.1111\/j.1478-3231.2011.02503.x"},{"key":"10.12890\/2022_003655_ref14","doi-asserted-by":"crossref","unstructured":"<li>Kieffer DA, Medici V. Wilson disease: at the crossroads between genetics and epigenetics\u2014a review of the evidence. <em>Liver Res<\/em> 2017;<strong>1<\/strong>:121\u2013130.<\/li>","DOI":"10.1016\/j.livres.2017.08.003"},{"key":"10.12890\/2022_003655_ref15","doi-asserted-by":"crossref","unstructured":"<li>Deguti MM, Genschel J, Cancado ELR, Barbosa ER, Bochow B, Mucenic M, et al. Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. <em>Hum Mutat<\/em> 2004;<strong>23<\/strong>:398.<\/li>","DOI":"10.1002\/humu.9227"},{"key":"10.12890\/2022_003655_ref16","doi-asserted-by":"crossref","unstructured":"<li>Bem RS de, Raskin S, Muzzillo DA, Deguti MM, Can\u00e7ado ELR, Ara\u00fajo TF, et al. Wilson\u2019s disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene. <em>Arq Neuropsiquiatr<\/em> 2013;<strong>71<\/strong>:503\u2013507.<\/li>","DOI":"10.1590\/0004-282X20130078"},{"key":"10.12890\/2022_003655_ref17","doi-asserted-by":"crossref","unstructured":"<li>Wilson DC, Phillips MJ, Cox DW, Roberts EA. Severe hepatic Wilson\u2019s disease in preschool-aged children. <em>J Pediatr<\/em> 2000;<strong>137<\/strong>:719\u2013722.<\/li>","DOI":"10.1067\/mpd.2000.108569"},{"key":"10.12890\/2022_003655_ref18","doi-asserted-by":"crossref","unstructured":"<li>Ferenci P, Czlonkowska A, Merle U, Ferenc S, Gromadzka G, Yurdaydin C, et al. Late-onset Wilson\u2019s disease. <em>Gastroenterology<\/em> 2007;<strong>132<\/strong>:1294\u20131298. <\/li>","DOI":"10.1053\/j.gastro.2007.02.057"}],"container-title":["European Journal of Case Reports in Internal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3655\/3304","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3655\/3305","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/download\/3655\/3305","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T13:38:00Z","timestamp":1755783480000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejcrim.com\/index.php\/EJCRIM\/article\/view\/3655"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,1]]},"references-count":18,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.12890\/2022_003655","relation":{"has-manifestation":[{"id-type":"other","id":"1-93-3655-g3304","asserted-by":"subject"},{"id-type":"other","id":"1-93-3655-g3305","asserted-by":"subject"}],"is-part-of":[{"id-type":"other","id":"1-93","asserted-by":"subject"}]},"ISSN":["2284-2594"],"issn-type":[{"type":"electronic","value":"2284-2594"}],"subject":[],"published":{"date-parts":[[2022,12,1]]}}}