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A consanguineous family was ascertained with three siblings affected by a severe prenatal neurodevelopmental disorder characterised by fronto\u2010parietal pachygyria, agenesis of the corpus callosum and progressive severe microcephaly. Autozygosity mapping and exome sequencing identified a homozygous novel single base pair deletion, c.1197delT in <jats:italic><jats:styled-content style=\"fixed-case\">DMRTA2<\/jats:styled-content><\/jats:italic>, predicted to result in a frameshift variant p.(<jats:styled-content style=\"fixed-case\">Pro400Leufs<\/jats:styled-content>*33). <jats:italic><jats:styled-content style=\"fixed-case\">DMRTA2<\/jats:styled-content><\/jats:italic> encodes doublesex and mab\u20103\u2010related transcription factor a2, a transcription factor key to the development of the dorsal telencephalon. Data from murine and zebrafish knockout models are consistent with the variant of <jats:italic><jats:styled-content style=\"fixed-case\">DMTRA2<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">DMRT5<\/jats:styled-content>)<\/jats:italic> as responsible for the cortical brain phenotype. Our study suggests that loss of function of <jats:styled-content style=\"fixed-case\">DMRTA2<\/jats:styled-content> leads to a novel disorder of cortical development.<\/jats:p>","DOI":"10.1111\/cge.12734","type":"journal-article","created":{"date-parts":[[2016,1,12]],"date-time":"2016-01-12T09:08:19Z","timestamp":1452589699000},"page":"724-727","source":"Crossref","is-referenced-by-count":37,"title":["<scp>DMRTA2<\/scp> (<scp><i>DMRT5<\/i><\/scp>) is mutated in a novel cortical brain malformation"],"prefix":"10.1111","volume":"89","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5788-5511","authenticated-orcid":false,"given":"J.E.","family":"Urquhart","sequence":"first","affiliation":[{"name":"Manchester Centre for Genomic Medicine, St. Mary's Hospital Manchester Academic Health Sciences Centre (MAHSC)  Manchester UK"},{"name":"Manchester Centre for Genomic Medicine Institute of Human Development  Manchester 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