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Intersections of Epigenetics, Twinning and Developmental Asymmetries: Insights Into Monogenic and Complex Diseases and a Role for 3D Facial Analysis

Published online by Cambridge University Press:  21 February 2012

Gareth Baynam*
Affiliation:
Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Australia; School of Paediatrics and Child Health, University of Western Australia, Australia. Gareth.Baynam@health.wa.gov.au
Peter Claes
Affiliation:
Catholic University of Leuven, Belgium.
Jeffrey M. Craig
Affiliation:
Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Australia.
Jack Goldblatt
Affiliation:
Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth, Australia; School of Paediatrics and Child Health, University of Western Australia, Australia.
Stefanie Kung
Affiliation:
School of Paediatrics and Child Health, University of Western Australia, Australia.
Peter Le Souef
Affiliation:
School of Paediatrics and Child Health, University of Western Australia, Australia.
Mark Walters
Affiliation:
Craniomaxillofacial Unit, Princess Margaret Hospital, Perth, Australia.
*
*ADDRESS FOR CORRESPONDENCE: Gareth Baynam, School of Paediatrics and Child Health (SPACH), The University of Western Australia (M561), 35 Stirling Highway, Crawley, WA, 6009, Australia.

Abstract

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For decades the relationships of twinning and alterations in body patterning, such as laterality and asymmetry, have been investigated. However, the tools to define and quantify these relationships have been limited and the majority of these studies have relied on associations with subjectively defined phenotypes. The emerging technologies of 3-dimensional (3D) facial scanning and geometric morphometrics are providing the means to establish objective criteria, including measures of asymmetry, which can be used for phenotypic classification and investigations. Additionally, advances in molecular epigenetics provide new opportunities for novel investigations of mechanisms central to early developmental processes, twinning and related phenotypes. We review the evidence for overlapping etiologies of twinning, asymmetry and selected monogenic and complex diseases, and we suggest that the combination of epigenetic investigations with detailed and objective phenotyping, utilizing 3D facial analysis tools, can reveal insights into the genesis of these phenomena.

Type
Articles
Copyright
Copyright © Cambridge University Press 2011