{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T08:56:18Z","timestamp":1778316978724,"version":"3.51.4"},"reference-count":32,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,5]],"date-time":"2023-04-05T00:00:00Z","timestamp":1680652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003792","name":"Hj\u00e4rnfonden","doi-asserted-by":"publisher","award":["FO2020\u20100351"],"award-info":[{"award-number":["FO2020\u20100351"]}],"id":[{"id":"10.13039\/501100003792","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004047","name":"Karolinska Institutet","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004047","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006741","name":"Stiftelsen Frimurare Barnhuset i Stockholm","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006741","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009389","name":"Stiftelsen Promobilia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009389","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011727","name":"Stockholm l\u00e4ns landsting","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011727","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2018\u201003046"],"award-info":[{"award-number":["2018\u201003046"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2019\u201002078"],"award-info":[{"award-number":["2019\u201002078"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004359","name":"Vetenskapsr\u00e5det","doi-asserted-by":"publisher","award":["2017\u201002936"],"award-info":[{"award-number":["2017\u201002936"]}],"id":[{"id":"10.13039\/501100004359","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Seckel syndrome is an ultrarare autosomal recessive genetically heterogenous condition characterized by intrauterine and postnatal growth restriction, proportionate severe short stature, severe microcephaly, intellectual disability, and distinctive facial features including a prominent nose. Up to now, 40 patients with molecularly confirmed Seckel syndrome have been reported with biallelic variants in nine genes: <jats:italic>ATR<\/jats:italic>, <jats:italic>CENPJ<\/jats:italic>, <jats:italic>CEP63<\/jats:italic>, <jats:italic>CEP152<\/jats:italic>, <jats:italic>DNA2<\/jats:italic>, <jats:italic>NIN<\/jats:italic>, <jats:italic>NSMCE2<\/jats:italic>, <jats:italic>RBBP8<\/jats:italic>, and <jats:italic>TRAIP<\/jats:italic>. Homozygosity for nonsense variant (c.129G&gt;A, p.43*) in <jats:italic>CEP63<\/jats:italic> was described in three cousins with microcephaly, short stature, mild to moderate intellectual disability and diagnoses of Seckel syndrome. Here, we report a second family with three siblings who are compound heterozygous for loss\u2010of\u2010function variants in <jats:italic>CEP63,<\/jats:italic> c.1125T&gt;G, p.(Tyr375*) and c.595del, p.(Glu199Asnfs*11). All siblings present with microcephaly, prominent nose, and intellectual disability but only one has severe short stature. Two siblings have aggressive behavior, a feature previously not reported in Seckel syndrome. This report adds two novel truncating variants in <jats:italic>CEP63<\/jats:italic> and extends the clinical knowledge on <jats:italic>CEP63<\/jats:italic>\u2010related conditions.<\/jats:p>","DOI":"10.1002\/ajmg.a.63200","type":"journal-article","created":{"date-parts":[[2023,4,5]],"date-time":"2023-04-05T13:09:02Z","timestamp":1680700142000},"page":"1929-1934","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Expanding the phenotype of Seckel syndrome associated with biallelic loss\u2010of\u2010function variants in <scp><i>CEP63<\/i><\/scp>"],"prefix":"10.1002","volume":"191","author":[{"given":"Nadja","family":"Pekkola Pacheco","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Karolinska University Hospital  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3120-1625","authenticated-orcid":false,"given":"Maria","family":"Pettersson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Karolinska University Hospital  Stockholm Sweden"},{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0806-5602","authenticated-orcid":false,"given":"Anna","family":"Lindstrand","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Karolinska University Hospital  Stockholm Sweden"},{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giedre","family":"Grigelioniene","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Karolinska University Hospital  Stockholm Sweden"},{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet  Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,5]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2014.01.027"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.076646"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2010.02.015"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200701"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0069986"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2012-2150"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.2006.00462.x"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.2471\/blt.07.043497"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10677"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200003000-00006"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/303023"},{"issue":"9","key":"e_1_2_10_13_1","first-page":"1","article-title":"Use of World Health Organization and CDC growth charts for children aged 0\u201359 months in the United States","volume":"59","author":"Grummer\u2010Strawn L. M.","year":"2010","journal-title":"MMWR\u2013Recommendations and Reports"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3451"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.725"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcjo.2014.07.013"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2012.12.030"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120104"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8676"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22245"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-57127-0_2"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1129"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002945"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci73264"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002310"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.2147\/imcrj.S241601"},{"key":"e_1_2_10_28_1","volume-title":"Bird\u2010headed dwarfs: Studies in developmental anthropology including human proportions","author":"Seckel H. P. G.","year":"1960"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.160572.113"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.971"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-021-00855-5"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.259273"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-08862-2"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63200","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T02:50:48Z","timestamp":1722394248000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63200"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,5]]},"references-count":32,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1002\/ajmg.a.63200"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63200","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,5]]},"assertion":[{"value":"2022-08-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}