DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation

Urquhart, J.E., Beaman, G., Byers, H., Roberts, N.A., Chervinsky, E., O'Sullivan, J., Pilz, Daniela, Fry, Andrew ORCID: https://orcid.org/0000-0001-9778-6924, Williams, S.G., Bhaskar, S.S., Khayat, M., Simanovsky, N., Shachar, I.B., Shalev, S.A. and Newman, W.G. 2016. DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation. Clinical Genetics 89 (6) , pp. 724-727. 10.1111/cge.12734

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Abstract

Lissencephaly is a phenotypically and genetically heterogeneous group of cortical brain malformations due to abnormal neuronal migration. The identification of many causative genes has increased the understanding of normal brain development. A consanguineous family was ascertained with three siblings affected by a severe prenatal neurodevelopmental disorder characterised by fronto-parietal 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 DMRTA2, predicted to result in a frameshift variant p.(Pro400Leufs*33). DMRTA2 encodes doublesex and mab-3-related 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 DMTRA2 (DMRT5) as responsible for the cortical brain phenotype. Our study suggests that loss of function of DMRTA2 leads to a novel disorder of cortical development.

Item Type:	Article
Date Type:	Published Online
Status:	Published
Schools:	Medicine
Uncontrolled Keywords:	agenesis corpus callosum; DMRT5; DMRTA2; lissencephaly; microcephaly; pachygyria
Publisher:	Wiley-Blackwell
ISSN:	0009-9163
Date of Acceptance:	7 January 2016
Last Modified:	06 Jul 2023 01:38
URI:	https://orca.cardiff.ac.uk/id/eprint/103709

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