{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:47Z","timestamp":1787014007680,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,12,28]],"date-time":"2022-12-28T00:00:00Z","timestamp":1672185600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Known hereditary human diseases featuring impaired copper trafficking across cellular membranes involve\n                    <jats:italic>ATP7A<\/jats:italic>\n                    (Menkes disease, occipital horn disease, X\u2010linked spinal muscular atrophy type 3) and\n                    <jats:italic>ATP7B<\/jats:italic>\n                    (Wilson disease). Herein, we report a newborn infant of consanguineous parents with a homozygous pathogenic variant in a highly conserved sequence of\n                    <jats:italic>SLC31A1<\/jats:italic>\n                    , coding for the copper influx transporter 1, CTR1. This missense variant, c.236T\u2009&gt;\u2009C, was detected by whole exome sequencing. The infant was born with pulmonary hypoplasia and suffered from severe respiratory distress immediately after birth, necessitating aggressive mechanical ventilation. At 2\u2009weeks of age, multifocal brain hemorrhages were diagnosed by cerebral ultrasound and magnetic resonance imaging, together with increased tortuosity of cerebral arteries. Ensuing seizures were only partly controlled by antiepileptic drugs, and the infant became progressively comatose. Laboratory investigations revealed very low serum concentrations of copper and ceruloplasmin. No hair shaft abnormalities were detected by dermatoscopy or light microscopic analyses of embedded hair shafts obtained at 4\u2009weeks of life. The infant died after redirection of care and elective cessation of invasive mechanical ventilation at 1\u2009month of age. This case adds\n                    <jats:italic>SLC31A1<\/jats:italic>\n                    to the genes implicated in severe hereditary disorders of copper transport in humans.\n                  <\/jats:p>","DOI":"10.1111\/cge.14289","type":"journal-article","created":{"date-parts":[[2022,12,23]],"date-time":"2022-12-23T03:13:25Z","timestamp":1671765205000},"page":"585-589","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of\n                    <scp>\n                      <i>SLC31A1<\/i>\n                    <\/scp>"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7303-6667","authenticated-orcid":false,"given":"Christof","family":"Dame","sequence":"first","affiliation":[{"name":"Department of Neonatology Charit\u00e9 Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0870-8911","authenticated-orcid":false,"given":"Denise","family":"Horn","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Charit\u00e9 Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9445-1555","authenticated-orcid":false,"given":"Lutz","family":"Schomburg","sequence":"additional","affiliation":[{"name":"Department of Experimental Endocrinology Charit\u00e9 Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Gr\u00fcnhagen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Charit\u00e9 Universit\u00e4tsmedizin Berlin  Berlin Germany"},{"name":"Department of Human Genetics Labor Berlin Charit\u00e9 Vivantes  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7706-7906","authenticated-orcid":false,"given":"Thilo Samson","family":"Chillon","sequence":"additional","affiliation":[{"name":"Department of Experimental Endocrinology Charit\u00e9 Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2601-9055","authenticated-orcid":false,"given":"Anna","family":"Tietze","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology Charit\u00e9 Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9134-8413","authenticated-orcid":false,"given":"Annika","family":"Vogt","sequence":"additional","affiliation":[{"name":"Department of Dermatology Charit\u00e9 Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9950-414X","authenticated-orcid":false,"given":"Christoph","family":"B\u00fchrer","sequence":"additional","affiliation":[{"name":"Department of Neonatology Charit\u00e9 Universit\u00e4tsmedizin Berlin  Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10534-022-00370-z"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.240523"},{"key":"e_1_2_9_4_1","volume-title":"GeneReviews","author":"Kaler 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