title: Intersections of epigenetics, twinning and developmental asymmetries: insights into monogenic and complex diseases and a role for 3D facial analysis.
abstract: 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.
authors.affiliation: Genetic Services of Western Australia, Princess Margaret and King Edward Memorial Hospitals, Perth.
authors.forename: Gareth
authors.initials: G
authors.lastname: Baynam
authors.forename: Peter
authors.initials: P
authors.lastname: Claes
authors.forename: Jeffrey M
authors.initials: JM
authors.lastname: Craig
authors.forename: Jack
authors.initials: J
authors.lastname: Goldblatt
authors.forename: Stefanie
authors.initials: S
authors.lastname: Kung
authors.forename: Peter
authors.initials: P
authors.lastname: Le Souef
authors.forename: Mark
authors.initials: M
authors.lastname: Walters
mesh_terms: D057890:Epigenomics; D005146:Facial Asymmetry / Q000196:embryology* / Q000235:genetics*; D006801:Humans; D021621:Imaging, Three-Dimensional; D009024:Morphogenesis; D010641:Phenotype; D018433:Twin Studies as Topic; D014427:Twins / Q000235:genetics*