{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T14:31:04Z","timestamp":1771338664778,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,2,2]],"date-time":"2016-02-02T00:00:00Z","timestamp":1454371200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>We evaluated a 13\u2010year\u2010old East Pakistani male affected with microcephaly, apparent intellectual disability, hypotonia, and brisk reflexes without spasticity. His parents were first cousins. The patient also had a brother who was similarly affected and died at 10 years due to an accident. Previous SNP array testing showed a 1.63 Mb duplication at 16p13.11 of uncertain significance along with regions of homozygosity. Exome sequencing identified a known pathogenic homozygous alteration in <jats:italic>DEAF1<\/jats:italic>, c.676C&gt;T (p.R226W), in this patient. The alteration had been reported in two individuals from a consanguineous Saudi Arabian family. Both individuals had microcephaly, intellectual disability, hypotonia, feeding difficulties, and poor growth. The patient reported here did not have evidence of white matter disease, as had been reported with prior patients. We conclude that this <jats:italic>DEAF1<\/jats:italic> gene alteration caused this patient's symptoms and that white matter disease should not be considered a obligate feature of this syndrome. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37580","type":"journal-article","created":{"date-parts":[[2016,2,2]],"date-time":"2016-02-02T12:31:49Z","timestamp":1454416309000},"page":"1330-1332","source":"Crossref","is-referenced-by-count":11,"title":["Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C&gt;T p.R226W <i>DEAF1<\/i> mutation"],"prefix":"10.1002","volume":"170","author":[{"given":"Christian","family":"Gund","sequence":"first","affiliation":[{"name":"Ambry Genetics 15 Argonaut Aliso Viejo California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z\u00f6e","family":"Powis","sequence":"additional","affiliation":[{"name":"Ambry Genetics 15 Argonaut Aliso Viejo California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy","family":"Alcaraz","sequence":"additional","affiliation":[{"name":"Ambry Genetics 15 Argonaut Aliso Viejo California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonal","family":"Desai","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristin","family":"Baranano","sequence":"additional","affiliation":[{"name":"Kennedy Krieger Institute Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,2,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000000305"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36482"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.154"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-013-9671-6"},{"key":"e_1_2_6_6_1","first-page":"29","article-title":"Diagnostic exome sequencing and tailored bioinformatics of the parents of a deceased child with cobalamin deficiency suggests digenic inheritance of the MTR and LMBRD1 genes","volume":"15","author":"Gonzalez KD","year":"2014","journal-title":"JIMD Rep"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh222"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.5.2074-2082.2004"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.40"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103083"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/gene.10090"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.013"}],"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.37580","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37580","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T12:16:15Z","timestamp":1696594575000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37580"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2,2]]},"references-count":11,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,5]]}},"alternative-id":["10.1002\/ajmg.a.37580"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37580","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,2]]}}}