{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T22:28:53Z","timestamp":1784413733237,"version":"3.55.0"},"reference-count":40,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T00:00:00Z","timestamp":1698105600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Anders Jahres fond til vitenskapens fremme"},{"name":"Norwegian National Advisory Unit on Rare Disorders"},{"name":"Quota scheme of Norwegian State Educational Loan Fund"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Str\u00f8mme syndrome is an ultra-rare primary ciliopathy with clinical variability. The syndrome is caused by bi-allelic variants in CENPF, a protein with key roles in both chromosomal segregation and ciliogenesis. We report three unrelated patients with Str\u00f8mme syndrome and, using high-throughput sequencing approaches, we identified novel pathogenic variants in CENPF, including one structural variant, giving a genetic diagnosis to the patients. Patient 1 was a premature baby who died at 26 days with congenital malformations affecting many organs including the brain, eyes, and intestine. She was homozygous for a donor splice variant in CENPF, NM_016343.3:c.1068+1G&gt;A, causing skipping of exon 7, resulting in a frameshift. Patient 2 was a female with intestinal atresia, microcephaly, and a Peters anomaly. She had normal developmental milestones at the age of 7 years. She is compound heterozygous for CENPF NM_016343.3:c.5920dup and c.8991del, both frameshift. Patient 3 was a male with anomalies of the brain, eye, intestine, and kidneys. He was compound heterozygous for CENPF p.(Glu298Ter), and a 5323 bp deletion covering exon 1. CENPF exon 1 is flanked by repetitive sequences that may represent a site of a recurrent structural variation, which should be a focus in patients with Str\u00f8mme syndrome of unknown etiology.<\/jats:p>","DOI":"10.3390\/genes14111985","type":"journal-article","created":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T11:34:47Z","timestamp":1698147287000},"page":"1985","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Str\u00f8mme Syndrome"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6594-5801","authenticated-orcid":false,"given":"Doriana","family":"Misceo","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway"},{"name":"Faculty of Medicine, University of Oslo, 0450 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lokuliyanage Dona Samudita","family":"Senaratne","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway"},{"name":"Faculty of Medicine, University of Oslo, 0450 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inger-Lise","family":"Mero","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3007-7784","authenticated-orcid":false,"given":"Arvind Y. M.","family":"Sundaram","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway"},{"name":"Faculty of Medicine, University of Oslo, 0450 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6217-7467","authenticated-orcid":false,"given":"P\u00e5l Marius","family":"Bj\u00f8rnstad","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway"},{"name":"Faculty of Medicine, University of Oslo, 0450 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krzysztof","family":"Szcza\u0142uba","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, \u017bwirki i Wigury 61, 02-091 Warszawa, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1037-7974","authenticated-orcid":false,"given":"Piotr","family":"Gasperowicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Medical University of Warsaw, \u017bwirki i Wigury 61, 02-091 Warszawa, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Kamien","sequence":"additional","affiliation":[{"name":"Genetic Services of Western Australia, King Edward Memorial Hospital, 374 Bagot Rd, Subiaco, WA 6008, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e5rd","family":"Nedregaard","sequence":"additional","affiliation":[{"name":"Department of Radiology and Nuclear Medicine, Section of Neuroradiology, Oslo University Hospital, 0450 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1434-0957","authenticated-orcid":false,"given":"Asbj\u00f8rn","family":"Holmgren","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway"},{"name":"Faculty of Medicine, University of Oslo, 0450 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3421-8131","authenticated-orcid":false,"given":"Petter","family":"Str\u00f8mme","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, University of Oslo, 0450 Oslo, Norway"},{"name":"Division of Pediatric and Adolescent Medicine, Oslo University Hospital, 0450 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8387-2247","authenticated-orcid":false,"given":"Eirik","family":"Frengen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway"},{"name":"Faculty of Medicine, University of Oslo, 0450 Oslo, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1111\/j.1399-0004.1993.tb03881.x","article-title":"Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly","volume":"44","author":"Dahl","year":"1993","journal-title":"Clin. 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