Translational Genetic Modelling of 3D Craniofacial Dysmorphology: Elaborating the Facial Phenotype of Neurodevelopmental Disorders Through the “Prism” of Schizophrenia

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...

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Published inCurrent behavioral neuroscience reports Vol. 4; no. 4; pp. 322 - 330
Main Authors Waddington, John L., Katina, Stanislav, O’Tuathaigh, Colm M. P., Bowman, Adrian W.
Format Journal Article
LanguageEnglish
Published Cham Springer International Publishing 01.12.2017
Springer Nature B.V
Subjects
Behavioral Therapy
Bipolar disorder
Congenital diseases
Fetal alcohol syndrome
Genes
Genetics and Neuroscience (C O’Tuathaigh
Genetics and Neuroscience (C O’Tuathaigh, Section Editor)
Human subjects
Magnetic resonance imaging
Medical imaging
Medicine
Medicine & Public Health
Neurodevelopmental disorders
Neuroimaging
Neurology
Pediatrics
Psychiatry
Psychosis
Schizophrenia
Section Editor
Three dimensional imaging
Topical Collection on Genetics and Neuroscience
Geometric morphometrics
Asymmetry
Mouse models
3D facial imaging
Craniofacial dysmorphology
Schizophrenia
Neurodevelopmental disorders
Online AccessGet full text
ISSN2196-2979
2196-2979
DOI10.1007/s40473-017-0136-3

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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.
AbstractList Purpose of ReviewIn 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 FindingsMutant 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.SummaryTargeted 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.
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.
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.PURPOSE OF REVIEWIn 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.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.RECENT FINDINGSMutant 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.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.SUMMARYTargeted 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.
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. 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. 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.
Author Waddington, John L.
Katina, Stanislav
Bowman, Adrian W.
O’Tuathaigh, Colm M. P.
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Issue 4
Keywords Geometric morphometrics
Asymmetry
Mouse models
3D facial imaging
Craniofacial dysmorphology
Schizophrenia
Neurodevelopmental disorders
Language English
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Snippet Purpose of Review In the context of human developmental conditions, we review the conceptualisation of schizophrenia as a neurodevelopmental disorder, the...
In the context of human developmental conditions, we review the conceptualisation of schizophrenia as a neurodevelopmental disorder, the status of craniofacial...
Purpose of ReviewIn the context of human developmental conditions, we review the conceptualisation of schizophrenia as a neurodevelopmental disorder, the...
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SubjectTerms Behavioral Therapy
Bipolar disorder
Congenital diseases
Fetal alcohol syndrome
Genes
Genetics and Neuroscience (C O’Tuathaigh
Genetics and Neuroscience (C O’Tuathaigh, Section Editor)
Human subjects
Magnetic resonance imaging
Medical imaging
Medicine
Medicine & Public Health
Neurodevelopmental disorders
Neuroimaging
Neurology
Pediatrics
Psychiatry
Psychosis
Schizophrenia
Section Editor
Three dimensional imaging
Topical Collection on Genetics and Neuroscience
Title Translational Genetic Modelling of 3D Craniofacial Dysmorphology: Elaborating the Facial Phenotype of Neurodevelopmental Disorders Through the “Prism” of Schizophrenia
URI https://link.springer.com/article/10.1007/s40473-017-0136-3
https://www.ncbi.nlm.nih.gov/pubmed/29201594
https://www.proquest.com/docview/2804082639
https://www.proquest.com/docview/1973023662
https://pubmed.ncbi.nlm.nih.gov/PMC5694503
Volume 4
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