{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:03:51Z","timestamp":1790550231019,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,8,31]],"date-time":"2017-08-31T00:00:00Z","timestamp":1504137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>There is a broad phenotypic spectrum of patients with 17p13.3 deletions. One of the most prominent feature is lissencephaly caused by haploinsufficiency of the gene <jats:italic><jats:styled-content style=\"fixed-case\">PAFAH1B1<\/jats:styled-content><\/jats:italic>. The deletion of this gene and those distal to it, results in Miller\u2010Dieker syndrome, however there have been many reports of patients with haploinsufficiency of the distal genes alone. The deletions of these genes including <jats:italic><jats:styled-content style=\"fixed-case\">YWHAE CRK<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">TUSC5<\/jats:styled-content><\/jats:italic> have been studied extensively and <jats:italic><jats:styled-content style=\"fixed-case\">YWHAE<\/jats:styled-content><\/jats:italic> has been postulated to be the cause of neurological abnormalities. The patients with deletions of the Miller\u2010Dieker syndrome distal region present with variable clinical features including brain abnormalities, growth retardation, developmental delay, facial dysmorphisms and seizures. While there have been many patients reported to have deletions involving the <jats:italic><jats:styled-content style=\"fixed-case\">YWHAE<\/jats:styled-content><\/jats:italic> gene along with other genes, here we present the first detailed clinical description of a patient with deletion of <jats:italic><jats:styled-content style=\"fixed-case\">YWHAE<\/jats:styled-content><\/jats:italic> alone, allowing a more accurate characterization of the pathogenicity of <jats:italic><jats:styled-content style=\"fixed-case\">YWHAE<\/jats:styled-content><\/jats:italic> haploinsufficiency. The patient reported here demonstrated brain abnormalities, learning disabilities, and seizures supporting the role of <jats:italic><jats:styled-content style=\"fixed-case\">YWHAE<\/jats:styled-content><\/jats:italic> in these features. We review the literature and use this case report to better characterize and further confirm the genotype\u2010phenotype relationship of the genes within the critical region of Miller\u2010Dieker Syndrome.<\/jats:p>","DOI":"10.1111\/cge.13056","type":"journal-article","created":{"date-parts":[[2017,5,25]],"date-time":"2017-05-25T15:56:10Z","timestamp":1495727770000},"page":"365-367","source":"Crossref","is-referenced-by-count":17,"title":["Disruption of <i><scp>YWHAE<\/scp><\/i> gene at 17p13.3 causes learning disabilities and brain abnormalities"],"prefix":"10.1111","volume":"93","author":[{"given":"A.","family":"Noor","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Division of Diagnostic Medical Genetics Mount Sinai Hospital  Toronto Canada"},{"name":"Department of Laboratory Medicine and Pathobiology University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Bogatan","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Division of Diagnostic Medical Genetics Mount Sinai Hospital  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Watkins","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Division of Diagnostic Medical Genetics Mount Sinai Hospital  Toronto Canada"},{"name":"Department of Molecular Genetics University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.S.","family":"Meschino","sequence":"additional","affiliation":[{"name":"Genetics Program, North York General Hospital  Toronto Canada"},{"name":"Department of Paediatrics University of Toronto  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5498-2108","authenticated-orcid":false,"given":"D.J.","family":"Stavropoulos","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathobiology University of Toronto  Toronto Canada"},{"name":"Genome Diagnostics, Department of Paediatric Laboratory Medicine The Hospital for Sick Children  Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,8,31]]},"reference":[{"key":"e_1_2_3_2_1","volume-title":"GeneReviews","author":"Smith ACM","year":"1993"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/374320"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg086"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.067637"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069112"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.069906"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22800"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4323-08.2008"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.06.009"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073810379638"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02741386"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R100059200"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1169"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2513-13.2014"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13056","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13056","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T07:25:36Z","timestamp":1695885936000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13056"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,31]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1111\/cge.13056"],"URL":"https:\/\/doi.org\/10.1111\/cge.13056","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,8,31]]}}}