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. 2014 Sep;22(9):1063-70.
doi: 10.1038/ejhg.2013.300. Epub 2014 Jan 8.

Variability in dentofacial phenotypes in four families with WNT10A mutations

Christian P Vink  1 , Charlotte W Ockeloen  2 , Sietske ten Kate  3 , David A Koolen  3 , Johannes Kristian Ploos van Amstel  4 , Anne-Marie Kuijpers-Jagtman  5 , Celeste C van Heumen  6 , Tjitske Kleefstra  2 , Carine E L Carels  7
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Variability in dentofacial phenotypes in four families with WNT10A mutations

Christian P Vink et al. Eur J Hum Genet. 2014 Sep.

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.

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Figures

Figure 1
Figure 1
Chromosome 2 with location and spread of reported mutations within the WNT10A gene. Schematic representation of the location of the WNT10A gene with its four exons within chromosome 2. Displayed nucleotide/amino-acid substitutions correspond with the currently known WNT10A mutations described in Table 1. Boxed substitutions are the mutations identified in this study.
Figure 2
Figure 2
a–d: Genotype and clinical and orofacial phenotype of four WNT10A mutation families. Pedigree as well as documentation from the probands (2D facial photographs, 3D digital stereophotogrammetry, intra-oral photographs and OPT) is displayed per family. Documentation from index patients in family A–C dates from the period prior to any orthodontic, surgical and/or comprehensive prosthetic treatment. Only patient D II-1 already had comprehensive prosthodontic treatment and adequate pre-treatment documentation could not be retrieved. Probands from family A–C consented to publication of all documentation, Patient D II-1 consented only to publication of intra-oral photographs and OPT.
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