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Variability in dentofacial phenotypes in four families with WNT10A mutations.
Eur J Hum Genet. 2014 Sep; 22(9):1063-70.EJ

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+Show Affiliations

Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, Nijmegen, The Netherlands.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.Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.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.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.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.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.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

24398796

Citation

Vink, Christian P., et al. "Variability in Dentofacial Phenotypes in Four Families With WNT10A Mutations." European Journal of Human Genetics : EJHG, vol. 22, no. 9, 2014, pp. 1063-70.
Vink CP, Ockeloen CW, ten Kate S, et al. Variability in dentofacial phenotypes in four families with WNT10A mutations. Eur J Hum Genet. 2014;22(9):1063-70.
Vink, C. P., Ockeloen, C. W., ten Kate, S., Koolen, D. A., Ploos van Amstel, J. K., Kuijpers-Jagtman, A. M., van Heumen, C. C., Kleefstra, T., & Carels, C. E. (2014). Variability in dentofacial phenotypes in four families with WNT10A mutations. European Journal of Human Genetics : EJHG, 22(9), 1063-70. https://doi.org/10.1038/ejhg.2013.300
Vink CP, et al. Variability in Dentofacial Phenotypes in Four Families With WNT10A Mutations. Eur J Hum Genet. 2014;22(9):1063-70. PubMed PMID: 24398796.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Variability in dentofacial phenotypes in four families with WNT10A mutations. AU - Vink,Christian P, AU - Ockeloen,Charlotte W, AU - ten Kate,Sietske, AU - Koolen,David A, AU - Ploos van Amstel,Johannes Kristian, AU - Kuijpers-Jagtman,Anne-Marie, AU - van Heumen,Celeste C, AU - Kleefstra,Tjitske, AU - Carels,Carine E L, Y1 - 2014/01/08/ PY - 2013/06/07/received PY - 2013/10/16/revised PY - 2013/11/20/accepted PY - 2014/1/9/entrez PY - 2014/1/9/pubmed PY - 2015/4/14/medline SP - 1063 EP - 70 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 22 IS - 9 N2 - 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. SN - 1476-5438 UR - https://wwww.unboundmedicine.com/medline/citation/24398796/Variability_in_dentofacial_phenotypes_in_four_families_with_WNT10A_mutations_ L2 - https://doi.org/10.1038/ejhg.2013.300 DB - PRIME DP - Unbound Medicine ER -