Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study - PubMed (original) (raw)
Multicenter Study
. 2017 Nov;92(5):477-486.
doi: 10.1111/cge.12972. Epub 2017 Mar 19.
S Jung 2 3, K Niederreither 4, M Prasad 5, S Hadj-Rabia 6, N Philip 7 8, A Mallet 8, E Consolino 8, E Sfeir 9, B Noueiri 9, N Chassaing 10, H Dollfus 5, M C Manière 2 3 11, A Bloch-Zupan 2 3 4, F Clauss 2 3 4 11
Affiliations
- PMID: 28105635
- DOI: 10.1111/cge.12972
Multicenter Study
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study
C Tardieu et al. Clin Genet. 2017 Nov.
Abstract
WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well as morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, WNT10A mutations are responsible for ectodermal-derived pathologies including isolated hypo-oligodontia, tricho-odonto-onycho-dermal dysplasia and Schöpf-Schulz-Passarge syndrome (SSPS). Here we describe the dental, ectodermal, and extra-ectodermal phenotypic features of a cohort of 41 patients from 32 unrelated families. Correlations with WNT10A molecular status (heterozygous carrier, compound heterozygous, homozygous) and patient's phenotypes were performed. Mild to severe oligodontia was observed in all patients bearing biallelic WNT10A mutations. However, patients with compound heterozygous mutations presented no significant difference in phenotypes compared with homozygous individuals. Anomalies in tooth morphology were frequently observed with heterozygous patients displaying hypodontia. No signs of SSPS, especially eyelids cysts, were detected in our cohort. Interestingly, extra-ectodermal signs consisted of skeletal, neurological and vascular anomalies, the latter suggesting a wider phenotypic spectrum associated with WNT10A mutations. Indeed, the Wnt pathway plays a crucial role in skeletal development, lipid metabolism, and neurogenesis, potentially explaining patient's clinical manifestations.
Keywords: WNT10A mutation; bone; dental phenotype; extra-ectodermal signs; oligodontia.
© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
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