title: Variability in dentofacial phenotypes in four families with WNT10A mutations.
abstract: This article describes the inter- and intra-familial phenotypic variability in four families with WNT10A mutations. Clinical characteristics of the patients range from mild to severe isolated tooth agenesis, over mild symptoms of ectodermal dysplasia, to more severe syndromic forms like odonto-onycho-dermal dysplasia (OODD) and Schöpf-Schulz-Passarge syndrome (SSPS). Recurrent WNT10A mutations were identified in all affected family members and the associated symptoms are presented with emphasis on the dentofacial phenotypes obtained with inter alia three-dimensional facial stereophotogrammetry. A comprehensive overview of the literature regarding WNT10A mutations, associated conditions and developmental defects is presented. We conclude that OODD and SSPS should be considered as variable expressions of the same WNT10A genotype. In all affected individuals, a dished-in facial appearance was observed which might be helpful in the clinical setting as a clue to the underlying genetic etiology.
authors.affiliation: Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Christian P
authors.initials: CP
authors.lastname: Vink
authors.affiliation: 1] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Center for Cleft Palate and Craniofacial Anomalies, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Charlotte W
authors.initials: CW
authors.lastname: Ockeloen
authors.affiliation: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Sietske
authors.initials: S
authors.lastname: ten Kate
authors.affiliation: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: David A
authors.initials: DA
authors.lastname: Koolen
authors.affiliation: Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
authors.forename: Johannes Kristian
authors.initials: JK
authors.lastname: Ploos van Amstel
authors.affiliation: 1] Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Center for Cleft Palate and Craniofacial Anomalies, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Kuijpers-Jagtman
authors.affiliation: 1] Radboud Center for Cleft Palate and Craniofacial Anomalies, Radboud University Medical Center, Nijmegen, The Netherlands [2] Center for Special Dental Care, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Celeste C
authors.initials: CC
authors.lastname: van Heumen
authors.affiliation: 1] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Center for Cleft Palate and Craniofacial Anomalies, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Tjitske
authors.initials: T
authors.lastname: Kleefstra
authors.affiliation: 1] Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Center for Cleft Palate and Craniofacial Anomalies, Radboud University Medical Center, Nijmegen, The Netherlands [3] Department of Oral Health Sciences, KU Leuven, Leuven, Belgium.
authors.forename: Carine E L
authors.identifier: 0000000289749223
authors.initials: CE
authors.lastname: Carels
mesh_terms: D000328:Adult; D000848:Anodontia / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D063169:Dentofacial Deformities / Q000175:diagnosis / Q000235:genetics*; D004439:Eccrine Glands / Q000002:abnormalities; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics; D005142:Eyelid Neoplasms / Q000175:diagnosis / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007039:Hypotrichosis / Q000175:diagnosis / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D051153:Wnt Proteins / Q000235:genetics*
chemical_list: C484142:WNT10A protein, human; D051153:Wnt Proteins