{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:07:33Z","timestamp":1791925653594,"version":"4.3.4"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T00:00:00Z","timestamp":1767744000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["FDN\u2010167281"],"award-info":[{"award-number":["FDN\u2010167281"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["MFE\u2010491707"],"award-info":[{"award-number":["MFE\u2010491707"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010275","name":"Deutsche Gesellschaft f\u00fcr Muskelkranke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010275","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["B2B\u2010RARE"],"award-info":[{"award-number":["B2B\u2010RARE"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The cleavage and polyadenylation specific factor 1 (\n                    <jats:italic>CPSF1<\/jats:italic>\n                    ) gene encodes a subunit of the cleavage and polyadenylation specificity factor (CPSF), a multi\u2010protein complex essential for mRNA 3\u2032 end processing. The role of CPSF1 in retinal function and eye development has been demonstrated using zebrafish models and heterozygous variants in\n                    <jats:italic>CPSF1<\/jats:italic>\n                    have been reported in early\u2010onset high myopia (MIM: 618827). Here, we present a patient with bilateral congenital cataracts and intellectual disability with a novel homozygous missense variant (c.3817G&gt;C; p.Asp1273His) in\n                    <jats:italic>CPSF1.<\/jats:italic>\n                    This amino acid change is predicted to change the protein structure with likely damaging effect. Proteomic results in white blood cells revealed increased CPSF1 protein abundance and dysregulated proteins in pathways linked to cellular signalling processes, protein degradation, and exosome biology. To our knowledge, this is the first report of recessive\n                    <jats:italic>CPSF1\u2010<\/jats:italic>\n                    related disease in humans presenting as a case with congenital cataracts, intellectual disability, and hyperphagia.\n                  <\/jats:p>","DOI":"10.1111\/cge.70130","type":"journal-article","created":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T10:01:51Z","timestamp":1767780111000},"page":"978-983","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Homozygous\n                    <scp>\n                      <i>CPSF1<\/i>\n                    <\/scp>\n                    Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia"],"prefix":"10.1111","volume":"109","author":[{"given":"Ozge Aksel","family":"Kilicarslan","sequence":"first","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada"},{"name":"Department of Cellular and Molecular Medicine University of Ottawa  Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9975-0092","authenticated-orcid":false,"given":"Andrea","family":"Gangfu\u00df","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Hentschel","sequence":"additional","affiliation":[{"name":"Leibniz\u2010Institut f\u00fcr Analytische Wissenschaften \u2010 ISAS \u2010 e.V  Dortmund Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"K\u00f6lbel","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Muhmann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"T\u00f6pf","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute Newcastle University and Newcastle Hospitals NHS Foundation Trust  Newcastle Upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mareile","family":"St\u00f6hr","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University Duisburg\u2010Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9841-170X","authenticated-orcid":false,"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, School of Clinical Medicine University of Cambridge  Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6889-0121","authenticated-orcid":false,"given":"Rachel","family":"Thompson","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada"},{"name":"Department of Cellular and Molecular Medicine University of Ottawa  Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrike","family":"Schara\u2010Schmidt","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro\u2010 and Behavioral Sciences University Duisburg\u2010Essen  Essen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingo","family":"Kurth","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Genomic Medicine RWTH Aachen University Hospital  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2324-8001","authenticated-orcid":false,"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada"},{"name":"Department of Cellular and Molecular Medicine University of Ottawa  Ontario Canada"},{"name":"Brain and Mind Research Institute University of Ottawa  Ottawa Ontario Canada"},{"name":"Division of Neurology, Department of Medicine The Ottawa Hospital  Ottawa Ontario Canada"},{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Kraft","sequence":"additional","affiliation":[{"name":"Center for Human Genetics and Genomic Medicine RWTH Aachen University Hospital  Aachen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran","family":"Polavarapu","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute  Ottawa Ontario Canada"},{"name":"Department of Cellular and Molecular Medicine University of Ottawa  Ontario 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Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,7]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.64.5.10"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz029"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/13813455.2020.1722704"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.18122"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-230181"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24338"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-024-12744-z"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab133"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.01.024"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/15548627.2021.1916195"}],"container-title":["Clinical 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