{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T12:24:04Z","timestamp":1789388644676,"version":"build-2803163510"},"reference-count":16,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2009,10,16]],"date-time":"2009-10-16T00:00:00Z","timestamp":1255651200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,11]]},"abstract":"Abstract<\/jats:title>We report on a 3\u2010year\u2010old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT<\/jats:italic> gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT<\/jats:italic> mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33035","type":"journal-article","created":{"date-parts":[[2009,10,16]],"date-time":"2009-10-16T18:17:56Z","timestamp":1255717076000},"page":"2452-2456","source":"Crossref","is-referenced-by-count":32,"title":["Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of the PCNT<\/i> gene"],"prefix":"10.1002","volume":"149A","author":[{"given":"Maria","family":"Piane","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Della Monica","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Piatelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia","family":"Lulli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fortunato","family":"Lonardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciana","family":"Chessa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gioacchino","family":"Scarano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,10,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31009"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1154513"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.141.1.163"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90504-5"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(03)00119-8"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.7.1137"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.80"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30203"},{"key":"e_1_2_7_10_1","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1242\/jcs.114.4.797","article-title":"Kendrin\/pericentrin\u2010B, a centrosome protein with homology to pericentrin that complexes with PCM\u20101","volume":"114","author":"Li Q","year":"2001","journal-title":"J Cell Sci"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120103"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120104"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120105"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.147.3.481"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1151174"},{"key":"e_1_2_7_16_1","unstructured":"WillemsM GenevieveD BorckG BaujatG GerardM HeronD LeheupB Le MerrerM VerloesA ColleauxL MunnichA Cormier\u2010DaireV.2008.Pericentrin molecular analysis in 22 Seckel\/MOPDII patients. 58th Annual Meeting American Society of Human Genetics Philadelphia PA p. 91."},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e03-11-0796"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33035","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33035","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T12:36:30Z","timestamp":1697632590000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33035"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10,28]]},"references-count":16,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2009,11]]}},"alternative-id":["10.1002\/ajmg.a.33035"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33035","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,10,28]]}}}