Translational genetic modelling of 3D craniofacial dysmorphology: elaborating the facial phenotype of neurodevelopmental disorders through the prism of schizophrenia

Waddington, J. L., Katina, S., O'Tuathaigh, C. M.P. and Bowman, A. W. (2017) Translational genetic modelling of 3D craniofacial dysmorphology: elaborating the facial phenotype of neurodevelopmental disorders through the prism of schizophrenia. Current Behavioral Neuroscience Reports, 4(4), pp. 322-330. (doi: 10.1007/s40473-017-0136-3) (PMID:29201594) (PMCID:PMC5694503)

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Abstract

Purpose of Review: In the context of human developmental conditions, we review the conceptualisation of schizophrenia as a neurodevelopmental disorder, the status of craniofacial dysmorphology as a clinically accessible index of brain dysmorphogenesis, the ability of genetically modified mouse models of craniofacial dysmorphology to inform on the underlying dysmorphogenic process and how geometric morphometric techniques in mutant mice can extend quantitative analysis. Recent Findings: Mutant mice with disruption of neuregulin-1, a gene associated meta-analytically with risk for schizophrenia, constitute proof-of-concept studies of murine facial dysmorphology in a manner analogous to clinical studies in schizophrenia. Geometric morphometric techniques informed on the topography of facial dysmorphology and identified asymmetry therein. Summary: Targeted disruption in mice of genes involved in individual components of developmental processes and analysis of resultant facial dysmorphology using geometric morphometrics can inform on mechanisms of dysmorphogenesis at levels of incisiveness not possible in human subjects.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Katina, Dr Stanislav and Bowman, Professor Adrian
Authors: Waddington, J. L., Katina, S., O'Tuathaigh, C. M.P., and Bowman, A. W.
College/School:College of Science and Engineering > School of Mathematics and Statistics > Statistics
Journal Name:Current Behavioral Neuroscience Reports
Publisher:Springer
ISSN:2196-2979
ISSN (Online):2196-2979
Published Online:09 November 2017
Copyright Holders:Copyright © 2017 The Authors
First Published:First published in Current Behavioral Neuroscience Reports 4(4): 322-330
Publisher Policy:Reproduced under a Creative Commons License

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Project CodeAward NoProject NamePrincipal InvestigatorFunder's NameFunder RefLead Dept
477842The analysis of three-dimensional facial dysmorphologyAdrian BowmanWellcome Trust (WELLCOTR)086901/Z/08/ZM&S - STATISTICS