{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:52:58Z","timestamp":1747183978285,"version":"3.40.5"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,7,7]],"date-time":"2020-07-07T00:00:00Z","timestamp":1594080000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004061","name":"Oesterreichische Nationalbank","doi-asserted-by":"publisher","award":["17627"],"award-info":[{"award-number":["17627"]}],"id":[{"id":"10.13039\/501100004061","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Biallelic loss\u2010of\u2010function mutations in the centrosomal pericentrin gene (<jats:italic>PCNT<\/jats:italic>) cause microcephalic osteodysplastic primordial dwarfism type II (MOPDII), which is characterized by extreme growth retardation, microcephaly, skeletal dysplasia, and dental anomalies. Life expectancy is reduced due to a high risk of cerebral vascular anomalies. Here, we report two siblings with MOPDII and attenuated growth restriction, and pachygyria. Compound heterozygosity for two novel truncated <jats:italic>PCNT<\/jats:italic> variants was identified. Both truncated PCNT proteins were expressed in patient's fibroblasts, with a reduced total protein amount compared to control. Patient's fibroblasts showed impaired cell cycle progression. As a novel finding, 20% of patient's fibroblasts were shown to express PCNT comparable to control. This was associated with normal mitotic morphology and normal co\u2010localization of mutated PCNT with centrosome\u2010associated proteins \u03b3\u2010tubulin and centrin 3, suggesting some residual function of truncated PCNT proteins. These data expand the clinical and molecular spectrum of MOPDII and indicate that residual PCNT function might be associated with attenuated growth restriction in MOPDII.<\/jats:p>","DOI":"10.1111\/cge.13797","type":"journal-article","created":{"date-parts":[[2020,6,18]],"date-time":"2020-06-18T05:25:45Z","timestamp":1592457945000},"page":"282-287","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel <scp><i>PCNT<\/i><\/scp> variants in <scp>MOPDII<\/scp> with attenuated growth restriction and pachygyria"],"prefix":"10.1111","volume":"98","author":[{"given":"Stephanie","family":"Waich","sequence":"first","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck  Innsbruck Austria"},{"name":"Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna  Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7155-0315","authenticated-orcid":false,"given":"Andreas R.","family":"Janecke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck  Innsbruck Austria"},{"name":"Division of Human Genetics Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Walther","family":"Parson","sequence":"additional","affiliation":[{"name":"Institute of Legal Medicine Medical University of Innsbruck  Innsbruck Austria"},{"name":"Forensic Science Program, The Pennsylvania State University  University Park Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Greber\u2010Platzer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna  Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lukas A.","family":"Huber","sequence":"additional","affiliation":[{"name":"Division of Cell Biology Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taras","family":"Valovka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics I Medical University of Innsbruck  Innsbruck Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8087-7026","authenticated-orcid":false,"given":"Julia","family":"Vodopiutz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna  Vienna Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,7,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30203"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1151174"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35447"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11914-017-0348-1"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200908114"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.80"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1154513"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.141.1.163"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2004.06.007"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2010.01.017"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33958"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2012.11.017"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2017.03.002"}],"container-title":["Clinical 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