{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T06:48:46Z","timestamp":1790837326785,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,4,30]],"date-time":"2022-04-30T00:00:00Z","timestamp":1651276800000},"content-version":"vor","delay-in-days":60,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GSP15001"],"award-info":[{"award-number":["GSP15001"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic loss\u2010of\u2010function (LoF) variants in\n                    <jats:italic>CENPF<\/jats:italic>\n                    gene are responsible for Str\u00f8mme syndrome, a condition presenting with intestinal atresia, anterior ocular chamber anomalies, and microcephaly. Through an international collaboration, four individuals (three males and one female) carrying\n                    <jats:italic>CENPF<\/jats:italic>\n                    biallelic variants, including two missense variants in homozygous state and four LoF variants, were identified by exome sequencing. All individuals had variable degree of developmental delay\/intellectual disability and microcephaly (ranging from \u22122.9 SDS to \u22125.6 SDS) and a recognizable pattern of dysmorphic facial features including inverted\u2010V shaped interrupted eyebrows, epicanthal fold, depressed nasal bridge, and pointed chin. Although one of the cases had duodenal atresia, all four individuals did not have the combination of internal organ malformations of Str\u00f8mme syndrome (intestinal atresia and anterior eye segment abnormalities). Immunofluorescence analysis on skin fibroblasts on one of the four cases with the antibody for ARL13B that decorates primary cilia revealed shorter primary cilia that are consistent with a ciliary defect. This case\u2010series of individuals with biallelic\n                    <jats:italic>CENPF<\/jats:italic>\n                    variants suggests the spectrum of clinical manifestations of the disorder that may be related to\n                    <jats:italic>CENPF<\/jats:italic>\n                    variants is broad and can include phenotypes lacking the cardinal features of Str\u00f8mme syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.c.31973","type":"journal-article","created":{"date-parts":[[2022,4,30]],"date-time":"2022-04-30T07:46:01Z","timestamp":1651304761000},"page":"102-108","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Biallelic variants in\n                    <scp>\n                      <i>CENPF<\/i>\n                    <\/scp>\n                    causing a phenotype distinct from Str\u00f8mme syndrome"],"prefix":"10.1002","volume":"190","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3934-2342","authenticated-orcid":false,"given":"Gerarda","family":"Cappuccio","sequence":"first","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Brillante","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Tammaro","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5927-1185","authenticated-orcid":false,"given":"Michele","family":"Pinelli","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita Lucia","family":"De Bernardi","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Gensini","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia K.","family":"Bijlsma","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamara T.","family":"Koopmann","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariette J. V.","family":"Hoffer","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Leiden University Medical Center  Leiden The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"McDonald","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Mississippi Medical Center  Jackson Mississippi USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura G.","family":"Hendon","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Mississippi Medical Center  Jackson Mississippi USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Douzgou","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Haukeland University Hospital  Bergen Norway"},{"name":"Division of Evolution, Infection and Genomics, School of Biological Sciences University of Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charulata","family":"Deshpande","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine St Mary's Hospital  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"D'Arrigo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neuroscience Fondazione IRCCS Istituto Neurologico C. Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine  Naples Italy"},{"name":"Department of Precision Medicine University of Campania \u2018Luigi Vanvitelli\u2019  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine  Naples Italy"},{"name":"Department of Precision Medicine University of Campania \u2018Luigi Vanvitelli\u2019  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5588-4569","authenticated-orcid":false,"given":"Brunella","family":"Franco","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine  Naples Italy"},{"name":"Scuola Superiore Meridionale School for Advanced Studies  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6895-8819","authenticated-orcid":false,"given":"Nicola","family":"Brunetti\u2010Pierri","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Section of Pediatrics Federico II University  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine  Naples Italy"},{"name":"Scuola Superiore Meridionale School for Advanced Studies  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4,30]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103844"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1209037"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/ckj\/sfz189"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21337"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22997"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ar.24018"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddaa029"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12859-018-2532-4"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38173"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkq603"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102691"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31973","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.c.31973","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.31973","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T16:50:48Z","timestamp":1692982248000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.31973"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1002\/ajmg.c.31973"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.31973","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3]]},"assertion":[{"value":"2022-01-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}