{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T04:48:02Z","timestamp":1790830082873,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,5,10]],"date-time":"2018-05-10T00:00:00Z","timestamp":1525910400000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:p>We report a 20p12.1 homozygous deletion including exons 5\u201010 of the <jats:italic>TASP1<\/jats:italic> gene in an infant with developmental delay, acquired microcephaly, distinctive facial features, and multiple congenital anomalies involving skeletal, cardiac, and renal systems. <jats:italic>TASP1<\/jats:italic> encodes taspase 1 which is responsible for cleaving, thus activating, a number of transcription factors including the mixed lineage leukemia 1 (MLL1). Taspase 1\u2010deficient mice showed early lethality, skeletal abnormalities, and growth failure, which support a potentially causal role of <jats:italic>TASP1<\/jats:italic> deletion in this infant. Furthermore, the infant reported here had many of the features seen in Wiedemann\u2010Steiner syndrome which is caused by MLL1 defects. Such observation further supports that <jats:italic>TASP1<\/jats:italic> is a novel disease\u2010related gene that is associated with a disease phenotype overlapping with Wiedemann\u2010Steiner syndrome as both are caused by defects in the same pathway.<\/jats:p>","DOI":"10.1111\/cge.13258","type":"journal-article","created":{"date-parts":[[2018,4,10]],"date-time":"2018-04-10T00:45:10Z","timestamp":1523321110000},"page":"170-173","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["<i>TASP1<\/i> is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies"],"prefix":"10.1111","volume":"94","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0914-7650","authenticated-orcid":false,"given":"J.","family":"Suleiman","sequence":"first","affiliation":[{"name":"Division of Neurology, Department of Pediatrics Tawam Hospital, and Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University  Al Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Mundt","sequence":"additional","affiliation":[{"name":"PreventionGenetics, LLC  Marshfield Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Sampath","sequence":"additional","affiliation":[{"name":"PreventionGenetics, LLC  Marshfield Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5737-5271","authenticated-orcid":false,"given":"A.W.","family":"El\u2010Hattab","sequence":"additional","affiliation":[{"name":"Division of Genetic and Metabolic Disorders, Department of Pediatrics Tawam Hospital  Al Ain United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,5,10]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.006"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2013.04.010"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2010.090115"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2007.04.009"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.160"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.248"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12872"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21360"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00816-X"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/23723556.2014.999513"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1449406"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.008"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13258","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13258","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T16:22:20Z","timestamp":1695486140000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13258"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5,10]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["10.1111\/cge.13258"],"URL":"https:\/\/doi.org\/10.1111\/cge.13258","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,10]]},"assertion":[{"value":"2018-03-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-03-30","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-05-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}