{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:48:57Z","timestamp":1764172137760},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,2,19]],"date-time":"2016-02-19T00:00:00Z","timestamp":1455840000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002997","name":"Nierstichting","doi-asserted-by":"publisher","award":["CP11.18"],"award-info":[{"award-number":["CP11.18"]}],"id":[{"id":"10.13039\/501100002997","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec><jats:label \/><jats:p>We report an 11\u2010year\u2010old girl with mild intellectual disability, skeletal anomalies, congenital heart defect, myopia, and facial dysmorphisms including an extra incisor, cup\u2010shaped ears, and a preauricular skin tag. Array comparative genomic hybridization analysis identified a de novo 4.5\u2010Mb microdeletion on chromosome 14q24.2q24.3. The deleted region and phenotype partially overlap with previously reported patients. Here, we provide an overview of the literature on 14q24 microdeletions and further delineate the associated phenotype. We performed exome sequencing to examine other causes for the phenotype and queried genes present in the 14q24.2q24.3 microdeletion that are associated with recessive disease for variants in the non\u2010deleted allele. The deleted region contains 65 protein\u2010coding genes, including the ciliary gene <jats:italic>IFT<\/jats:italic>43. Although Sanger and exome sequencing did not identify variants in the second <jats:italic>IFT43<\/jats:italic> allele or in other IFT complex A\u2010protein\u2010encoding genes, immunocytochemistry showed increased accumulation of IFT\u2010B proteins at the ciliary tip in patient\u2010derived fibroblasts compared to control cells, demonstrating defective retrograde ciliary transport. This could suggest a ciliary defect in the pathogenesis of this disorder. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37598","type":"journal-article","created":{"date-parts":[[2016,2,20]],"date-time":"2016-02-20T14:51:56Z","timestamp":1455979916000},"page":"1566-1569","source":"Crossref","is-referenced-by-count":4,"title":["De novo 14q24.2q24.3 microdeletion including <i>IFT43<\/i> is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia"],"prefix":"10.1002","volume":"170","author":[{"given":"Marijn F.","family":"Stokman","sequence":"first","affiliation":[{"name":"Department of Genetics Center for Molecular Medicine University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Machteld M.","family":"Oud","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud Insitute for Molecular Life Sciences Radboud university medical center Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen","family":"van Binsbergen","sequence":"additional","affiliation":[{"name":"Department of Genetics Center for Molecular Medicine University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gisela G.","family":"Slaats","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nayia","family":"Nicolaou","sequence":"additional","affiliation":[{"name":"Department of Genetics Center for Molecular Medicine University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirsten Y.","family":"Renkema","sequence":"additional","affiliation":[{"name":"Department of Genetics Center for Molecular Medicine University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isaac J.","family":"Nijman","sequence":"additional","affiliation":[{"name":"Department of Genetics Center for Molecular Medicine University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald","family":"Roepman","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud Insitute for Molecular Life Sciences Radboud university medical center Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel H.","family":"Giles","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Hypertension University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heleen H.","family":"Arts","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud Insitute for Molecular Life Sciences Radboud university medical center Nijmegen The Netherlands"},{"name":"Department of Biochemistry University of Western Ontario London Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nine V. A. M.","family":"Knoers","sequence":"additional","affiliation":[{"name":"Department of Genetics Center for Molecular Medicine University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mieke M.","family":"van Haelst","sequence":"additional","affiliation":[{"name":"Department of Genetics Center for Molecular Medicine University Medical Center Utrecht Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,2,19]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1757-1626-1-407"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.088864"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0854.2003.t01-1-00103.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.03.010"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2011.396"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1063525"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcp.2015.07.003"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36265"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.112.001054"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36593"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36321"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36056"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-7-49"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1085672"}],"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.37598","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37598","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T09:49:27Z","timestamp":1696585767000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37598"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,19]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,6]]}},"alternative-id":["10.1002\/ajmg.a.37598"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37598","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,19]]}}}