{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T18:37:22Z","timestamp":1792694242398,"version":"4.5.0"},"reference-count":11,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2018,9,23]],"date-time":"2018-09-23T00:00:00Z","timestamp":1537660800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,11]]},"abstract":"<jats:p>We report two discordant clinical and imaging features in four male patients from two unrelated families of Egyptian descent with hemizygous pathogenic variants in <jats:italic>PQBP1.<\/jats:italic> The three patients of the first family displayed the typical features underlying <jats:italic>PQBP1<\/jats:italic> such as the long triangular face, bulbous nose, hypoplastic malar region, and micrognathia, which were subsequently confirmed using targeted sequence analysis that showed a previously reported nonsense mutation c.586C<jats:italic>&gt;<\/jats:italic>T p.R196*. Whole exome sequencing identified a novel missense <jats:italic>PQBP1<\/jats:italic> variant c.530G&gt;A:p.R177H in the second family, in which the index patient presented with intellectual disability and dysmorphic facial features reminiscent of Kabuki\u2010like syndrome and his brain magnetic resonance imaging revealed partial agenesis of corpus callosum, mild vermis, and brainstem hypoplasia. These imaging features are distinct from the previously described with a well\u2010known phenotype that is already known for <jats:italic>PQBP1.<\/jats:italic> This report expands the phenotypic spectrum of <jats:italic>PQBP1<\/jats:italic>\u2010related disorders and is the second reported missense <jats:italic>PQBP1<\/jats:italic> variant. Further, it highlights the possible role of <jats:italic>PQBP1<\/jats:italic> in hindbrain development.<\/jats:p>","DOI":"10.1002\/ajmg.a.40479","type":"journal-article","created":{"date-parts":[[2018,9,23]],"date-time":"2018-09-23T14:38:36Z","timestamp":1537713516000},"page":"2446-2450","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Phenotypic and molecular insights into <i>PQBP1<\/i>\u2010related intellectual disability"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2893-8802","authenticated-orcid":false,"given":"Ghada M. H.","family":"Abdel\u2010Salam","sequence":"first","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0987-310X","authenticated-orcid":false,"given":"Noriko","family":"Miyake","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inas S. M.","family":"Sayed","sequence":"additional","affiliation":[{"name":"Orodental Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed I.","family":"Gadelhak","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samira I.","family":"Ismail","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona S.","family":"Aglan","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanan H.","family":"Afifi","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samia A.","family":"Temtamy","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomichi","family":"Matsumoto","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Yokohama City University Graduate School of Medicine  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,9,23]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201593"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01551.x"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1264"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00308.x"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.037556"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201717"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9568.2005.04339.x"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33507"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30664"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.084525"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.212308.112"}],"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.40479","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.40479","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T13:15:44Z","timestamp":1694697344000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.40479"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,23]]},"references-count":11,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2018,11]]}},"alternative-id":["10.1002\/ajmg.a.40479"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.40479","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,23]]},"assertion":[{"value":"2018-04-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-09-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}