Tricho‐odonto‐onycho‐dermal dysplasia and <i>WNT10A</i> mutations

Kantaputra, Piranit Nik; Kaewgahya, Massupa; Jotikasthira, Dhirawat; Kantaputra, Warissara

doi:10.1002/ajmg.a.36388

Cited by 30 publications

(20 citation statements)

References 22 publications

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“…Some of our patients had skin defects and smooth tongue (patient 10 Table ) and were diagnosed as tricho‐odonto‐onycho‐dermal dysplasia (TOODD), a likely phenotypic variant of this disease. Facial telangiectases, palmoplantar keratodermia and multiple eyelids cysts have been linked to WNT10A mutations in the Schöpf‐Schulz‐Passarge syndrome (SSPS) . One quarter to one half of WNT10A phenotypes include non‐syndromic oligodontia .…”

Section: Discussionmentioning

confidence: 99%

Dental and extra‐oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype–phenotype study

et al. 2017

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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.

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Section: Discussionmentioning

confidence: 99%

Dental and extra‐oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype–phenotype study

et al. 2017

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“…OODD and SSPS share a common ectodermal dysplasia involving hair, teeth, nails, and skin, characterized by dry hair, hypodontia (tooth agenesis), smooth tongue, nail dysplasia, hyperkeratosis of the skin, and palmoplantar keratoderma. Currently, OODS and SSPS are considered a part of the same disorder within the Wnt10a mutations [86], [87]. Wnt10a mutations have also been described to be the most common causes of non-syndromic severe hypodontia with minor signs of ectodermal dysplasia [88] and autosomal-dominant inherited isolated hypodontia [89], [90], [91].…”

Section: Human Diseases In Tooth Associated With Mutations Of the Wntmentioning

confidence: 99%

Role of the Wnt signaling molecules in the tooth

Tamura

Nemoto

2016

Japanese Dental Science Review

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SummaryWnt signaling plays a central role in many processes during embryonic development and adult homeostasis. At least 19 types of Wnt ligands, receptors, transducers, transcription factors, and antagonists have been identified in mammals. Two distinct Wnt signaling pathways, the canonical signaling pathway and the noncanonical signaling pathway, have been described. Some Wnt signaling pathway components are expressed in the dental epithelium and mesenchyme during tooth development in humans and mice. Functional studies and experimental analysis of relevant animal models confirm the effects of Wnt signaling pathway on the regulation of developing tooth formation and adult tooth homeostasis. Mutations in some Wnt signaling pathway components have been identified in syndromic and non-syndromic tooth agenesis. This review provides an overview of progress in elucidating the role of Wnt signaling pathway components in the tooth and the resulting possibilities for therapeutic development.

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“…Patients may present with nail dystrophy, palmoplantar hyperkeratosis, hyperhidrosis as well as hypohidrosis, sparse or brittle hair, eye-lid cysts and keratoconus in different combinations and severity in a continuum of phenotypes [3–6]. In some cases the constellation of features may be defined as a specific clinical entity among the ectodermal dysplasias (EDs), e.g., odonto-onycho-dermal dysplasia (OODD; OMIM 257980) or Schöpf-Schultz-Passarge syndrome (SSPS; OMIM 224750) [3–5, 7]. The most consistent and specific symptom in cases with either bi-allelic or mono-allelic WNT10A mutations reported to date is tooth agenesis of the permanent dentition [3, 4, 6, 8–14].…”

Section: Introductionmentioning

confidence: 99%

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency

et al. 2016

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BackgroundThe WNT10A protein is critical for the development of ectodermal appendages. Variants in the WNT10A gene may be associated with a spectrum of ectodermal abnormalities including extensive tooth agenesis.MethodsIn seven patients with severe tooth agenesis we identified anomalies in primary dentition and additional ectodermal symptoms, and assessed WNT10A mutations by genetic analysis.ResultsInvestigation of primary dentition revealed peg-shaped crowns of primary mandibular incisors and three individuals had agenesis of at least two primary teeth. The permanent dentition was severely affected in all individuals with a mean of 21 missing teeth. Primary teeth were most often present in positions were succedaneous teeth were missing. Furthermore, most existing molars had taurodontism. Light, brittle or coarse hair was reported in all seven individuals, hyperhidrosis of palms and soles in six individuals and nail anomalies in two individuals. The anomalies in primary dentition preceded most of the additional ectodermal symptoms. Genetic analysis revealed that all seven individuals were homozygous or compound heterozygous for WNT10A mutations resulting in C107X, E222X and F228I.ConclusionsWe conclude that tooth agenesis and/or peg-shaped crowns of primary mandibular incisors, severe oligodontia of permanent dentition as well as ectodermal symptoms of varying severity may be predictors of bi-allelic WNT10A mutations of importance for diagnosis, counselling and follow-up.

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Tricho‐odonto‐onycho‐dermal dysplasia and WNT10A mutations

Cited by 30 publications

References 22 publications

Dental and extra‐oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype–phenotype study

Dental and extra‐oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype–phenotype study

Role of the Wnt signaling molecules in the tooth

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency

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