A novel WNT10A mutation causes non-syndromic hypodontia in an Egyptian family

Abdalla, Ebtesam; Mostowska, Adrianna; Jagodzińśki, Paweł P.; Dwidar, Karin; Ismail, Suzan R.

doi:10.1016/j.archoralbio.2014.04.004

Cited by 24 publications

(16 citation statements)

References 37 publications

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“…WNT10A mutations are found with a high prevalence (between 35% and 50%) in patients with selective tooth agenesis . Hence, WNT10A gene seems to be a major regulator of odontogenesis, its mutation producing both isolated and syndromic hypodontia or oligodontia.…”

Section: Discussionmentioning

confidence: 99%

“…Wingless‐related Integration Site 10A ( WNT10A ) gene encodes a wingless pathway signaling molecule involved in a broad spectrum of embryonic developmental processes and cell cycle regulation. WNT10A gene mutations are responsible for a spectrum of phenotypes ranging from isolated oligodontia to complex forms of autosomal recessive ectodermal dysplasias (ED) …”

Section: Introductionmentioning

confidence: 99%

“…WNT10A gene mutations are responsible for a spectrum of phenotypes ranging from isolated oligodontia to complex forms of autosomal recessive ectodermal dysplasias (ED). [1][2][3] Isolated oligodontia can be a heritable developmental abnormality with a 0.1% prevalence. 4 It is often linked to a mutation in genes encoding transcriptional factors involved in early steps of odontogenesis (MSX1, PAX9, AXIN2, IRF6), or components of ectodysplasin signaling (EDA, EDAR, EDARADD) or Wnt signaling pathways (WNT10A, LRP5/6).…”

Section: Introductionmentioning

confidence: 99%

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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%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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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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“…It could be associated with tens of different syndromes and craniofacial anomalies [3]. An etiology of familiar or nonsyndromic CMPT is not fully explained, and multifactorial inheritance including mutations of specific genes, AXIN2 , MSX1 , PAX9 , and WNT10A , was reported [4–6]. The most common CMPT is nonsyndromic and affects a small number of teeth.…”

Section: Introductionmentioning

confidence: 99%

Dental Age and Tooth Development in Orthodontic Patients with Agenesis of Permanent Teeth

Badrov

Lauc

Nakaš

et al. 2017

BioMed Research International

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Objective. To compare the development of permanent teeth in a group of children with the congenitally missing permanent teeth (CMPT) and corresponding nonaffected group. Methods. The formation stages of all developing permanent teeth were determined on 345 panoramic radiographs (OPTs) by the method of Haavikko (1970), and dental age was calculated. The paired samples t-test was used to compare the differences between dental age (DA) and chronological age (CA) in those with CMPT and those not affected. Spearman test was used to evaluate the correlation between DA-CA and the number of missing teeth. The Wilcoxon signed rank test was used to compare the development of the teeth adjacent to the place of the agenesis with matched pair in corresponding nonaffected group. Results. Dental age was significantly delayed in CMPT children compared to the nonaffected group (p < 0.001). The mean differences were −0.57 ± 1.20 years and −0.61 ± 1.23 years in males and females, without difference between sexes (p = 0.763). The number of missing teeth affected the delay only in females (p = 0.024). Only mesial teeth in females were significantly delayed in development when compared to the nonaffected group (p = 0.007). Conclusion. Our findings show that the development of the permanent teeth is delayed when compared to the nonaffected group of the same sex and age.

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“…As a matter of fact, these four genes account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases (CLUZEAU et al, 2011). However, the latest research associates them also with cases of non-syndromic form of tooth agenesis (ABDALLA et al, 2014;BERGENDAL et al, 2011;HAN et al, 2008;KANTAPUTRA and SRIPATHOMSAWAT, 2011;SONG et al, 2009;SONG et al, 2014;VAN DEN BOOGAARD et al, 2012). Therefore, the research studying genetic background of isolated tooth agenesis is recently more focused on components of signalling pathways Eda/NF-kB and Wnt/B-catenin, in which above mentioned genes play important roles.…”

Section: Introductionmentioning

confidence: 99%

Sequence analysis of candidate genes in two Roma families with severe tooth agenesis

et al. 2016

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Selective tooth agenesis is the most common congenital disorder affecting the formation of dentition in humans. Both its forms (hypodontia and more severe oligodontia) can be found either in isolated form and they can be associated with systemic condition (syndromic tooth agenesis). In addition to previously known genes (PAX9, MSX1 and AXIN2) mutations in EDA, EDARADD and WNT10 gene were recently found to be involved in isolated forms of tooth agenesis. The objective of this study was to characterize the phenotype of affected members in two large families of Roma origin segregating severe isolated tooth agenesis with very variable phenotype and to perform mutation analysis of seven genes with aim to find causal mutation. 26 family members were clinically examined and coding regions of seven genes (MSX1, PAX9, AXIN2, EDA, EDAR, EDARADD and WNT10A) were sequenced. With exclusion of third molars, average number of missing teeth was 8.2 ± 4.9 in family 1 and 7.1 ± 2.3 in family 2. The most frequently missing teeth were maxillary lateral incisors and first premolars and mandibular central incisors. Sequencing revealed four potentially damaging variants (g.Ala40Gly in MSX1, g.Ala240Pro in PAX9, g.Pro50Ser in AXIN2 and g.Met9Ile in EDARADD); however, none of them was present in all affected family members. Variable phenotype in both families examined in this study is in favour of heterogeneous genetic cause of tooth agenesis in these families: possible interaction of 946

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A novel WNT10A mutation causes non-syndromic hypodontia in an Egyptian family

Cited by 24 publications

References 37 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

Dental Age and Tooth Development in Orthodontic Patients with Agenesis of Permanent Teeth

Sequence analysis of candidate genes in two Roma families with severe tooth agenesis

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