{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T12:25:29Z","timestamp":1776687929409,"version":"3.51.2"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,4,24]],"date-time":"2016-04-24T00:00:00Z","timestamp":1461456000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2016,5]]},"abstract":"Abstract<\/jats:title>The WDR62<\/jats:italic> gene encodes a scaffold protein of the c\u2010J<\/jats:styled-content>un N<\/jats:styled-content>\u2010terminal kinase (JNK<\/jats:styled-content>) pathway. It plays a critical role in laying out various cellular layers in the cerebral cortex during embryogenesis, and hence the dramatic clinical features resulting from WDR<\/jats:italic><\/jats:styled-content>62<\/jats:italic> mutations. These mutations are associated with autosomal recessive primary microcephaly 2, with or without cortical malformations (MCPH<\/jats:styled-content>2). Using whole exome sequencing we uncovered a novel WDR<\/jats:italic><\/jats:styled-content>62<\/jats:italic> variant; c.390G\u2009>\u2009A, from two Sudanese siblings whose parents are first cousins. The patients suffered MCPH<\/jats:styled-content>2 with incomplete lissencephaly and developmental delay. The mutation affects the last nucleotide of exon4, and probably leads to aberrant splicing, which may result in a truncated protein lacking all functional domains.<\/jats:p>","DOI":"10.1111\/cga.12144","type":"journal-article","created":{"date-parts":[[2015,11,18]],"date-time":"2015-11-18T03:18:42Z","timestamp":1447816722000},"page":"135-137","source":"Crossref","is-referenced-by-count":13,"title":["Novel splice\u2010site mutation in WDR<\/i><\/scp>62<\/i> revealed by whole\u2010exome sequencing in a S<\/scp>udanese family with primary microcephaly"],"prefix":"10.1111","volume":"56","author":[{"given":"Fatma","family":"Bastaki","sequence":"first","affiliation":[{"name":"Pediatric Department Dubai Health Authority Latifa Hospital Dubai United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madiha","family":"Mohamed","sequence":"additional","affiliation":[{"name":"Pediatric Department Dubai Health Authority Latifa Hospital Dubai United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pratibha","family":"Nair","sequence":"additional","affiliation":[{"name":"Centre for Arab Genomic Studies Dubai United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fatima","family":"Saif","sequence":"additional","affiliation":[{"name":"Pediatric Department Dubai Health Authority Latifa Hospital Dubai United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nafisa","family":"Tawfiq","sequence":"additional","affiliation":[{"name":"Pediatric Department Dubai Health Authority Latifa Hospital Dubai United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gururaj","family":"Aithala","sequence":"additional","affiliation":[{"name":"Pediatric Department Dubai Health Authority Latifa Hospital Dubai United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Majdi","family":"El\u2010Halik","sequence":"additional","affiliation":[{"name":"Pediatric Department Dubai Health Authority Latifa Hospital Dubai United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmoud","family":"Al\u2010Ali","sequence":"additional","affiliation":[{"name":"Centre for Arab Genomic Studies Dubai United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdul Rezzak","family":"Hamzeh","sequence":"additional","affiliation":[{"name":"Centre for Arab Genomic Studies Dubai United Arab Emirates"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,4,24]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09327"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.107326"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng995"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn2252"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20110284"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm407"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7777856"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-39"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-014-0107-4"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/429930"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12144","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12144","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T16:40:39Z","timestamp":1695746439000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12144"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4,24]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["10.1111\/cga.12144"],"URL":"https:\/\/doi.org\/10.1111\/cga.12144","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,4,24]]}}}