{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T22:53:51Z","timestamp":1790376831656,"version":"4.1.0"},"reference-count":6,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T00:00:00Z","timestamp":1589846400000},"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":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Intellectual disability (ID) is a complicated and multifactorial condition often with an unclear cause. Advancements in diagnostic techniques have identified genetic causes in a significant proportion. Pathogenic variants in <jats:italic>TRIP12<\/jats:italic>, encoding for an E3 ligand in the ubiquitin\u2010protease pathway, have previously been identified as a cause of ID with autistic behavior and dysmorphic features. We report two unrelated patients with de novo mutations in <jats:italic>TRIP12<\/jats:italic> and diagnoses of global developmental delay, autism spectrum disorder and dysmorphic features, as well as a range of other characteristics. Exome sequencing was utilized as part of an extensive genetic workup for both individuals. The genotypic and phenotypic data for both patients has been collated with previously reported data. Epilepsy was noted in about 20% published cases. One of our patents had epilepsy. These cases highlight the variable phenotypic presentations of <jats:italic>TRIP12<\/jats:italic> variations while emphasizing the core features of ID and speech delay, with or without autistic features and epilepsy.<\/jats:p>","DOI":"10.1002\/ajmg.a.61618","type":"journal-article","created":{"date-parts":[[2020,5,19]],"date-time":"2020-05-19T08:35:32Z","timestamp":1589877332000},"page":"1801-1806","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Novel de novo <scp><i>TRIP12<\/i><\/scp> mutation reveals variable phenotypic presentation while emphasizing core features of <scp><i>TRIP12<\/i><\/scp> variations"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4665-0263","authenticated-orcid":false,"given":"Tess","family":"Donoghue","sequence":"first","affiliation":[{"name":"University of Newcastle  Callaghan New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Garrity","sequence":"additional","affiliation":[{"name":"University of Newcastle  Callaghan New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Ziolkowski","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine John Hunter Hospital  New Lambton Heights New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"McPhillips","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine John Hunter Hospital  New Lambton Heights New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Buckman","sequence":"additional","affiliation":[{"name":"Tamworth Community Health Centre  Tamworth New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6448-6618","authenticated-orcid":false,"given":"Himanshu","family":"Goel","sequence":"additional","affiliation":[{"name":"University of Newcastle  Callaghan New South Wales Australia"},{"name":"Hunter Genetics  Waratah New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,19]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1743-x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4352"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13908"},{"issue":"3","key":"e_1_2_10_5_1","first-page":"595","article-title":"Clark\u2010Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12","volume":"182","author":"Louie R. J.","year":"2019","journal-title":"Human Genetics"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/med.1009"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1828-1"}],"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.61618","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61618","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61618","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61618","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T05:20:38Z","timestamp":1693804838000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61618"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,19]]},"references-count":6,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2020,7]]}},"alternative-id":["10.1002\/ajmg.a.61618"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61618","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,19]]},"assertion":[{"value":"2019-12-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-04-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-05-19","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}