Dataset Information

The association between WNT10A variants and dental development in patients with isolated oligodontia.

ABSTRACT: In this study we aimed to determine the effect of WNT10A variants on dental development in patients with oligodontia. Forty-three (25 boys and 18 girls) individuals were eligible for this study. Stage of development for each present tooth was assessed using the Demirjian method. In case no corresponding tooth was present, regression equations were applied for dental age to be calculated. The ratio between length of root and length of crown was ascertained for each present tooth in all quadrants. All patients were physically examined by a clinical geneticist and DNA analysis of the WNT10A gene was performed. Linear regression models were applied to analyze the association between WNT10A variants and dental age. The same analysis was applied to study the association between WNT10A variants and root elongation for each present tooth. One ordinal regression model was applied to analyze the association between WNT10A variants and development of present maxillary and mandibular teeth. Thirty-six (84%) patients were detected with WNT10A variants of which six patients displayed evident ectodermal features. Dental age was 1.50 (95% confidence interval (CI): -2.59, -0.42) to 1.96 (95% CI: -3.76, -0.17) years lower in patients with WNT10A variants compared with patients without variants. The development of maxillary canine, maxillary second molar and mandibular second molar was statistically significantly delayed in patients with WNT10A variants compared with patients without variants. The impact of WNT10A variants on dental development increases with presence of the nonsense c.(321C>A p.(C107*)) variant and the number of missing teeth.

SUBMITTER: Dhamo B

PROVIDER: S-EPMC5159758 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

The association between WNT10A variants and dental development in patients with isolated oligodontia.

Dhamo Brunilda B Fennis Willem W Créton Marijn M Vucic Strahinja S Cune Marco M Ploos van Amstel Hans Kristian HK Wolvius Eppo B EB van den Boogaard Marie-José MJ Ongkosuwito Edwin M EM

European journal of human genetics : EJHG 20160101 1

In this study we aimed to determine the effect of WNT10A variants on dental development in patients with oligodontia. Forty-three (25 boys and 18 girls) individuals were eligible for this study. Stage of development for each present tooth was assessed using the Demirjian method. In case no corresponding tooth was present, regression equations were applied for dental age to be calculated. The ratio between length of root and length of crown was ascertained for each present tooth in all quadrants. ...[more]

PMID: 27650966

Similar Datasets

Project description:The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. However, several reports of non-syndromic/isolated tooth agenesis have also been found in the literature. The characteristic features of hypohidrotic ectodermal dysplasia (HED) comprise of hypodontia/oligodontia, along with hypohidrosis/anhidrosis, and hypotrichosis. Pathogenic variants in EDA, EDAR, EDARADD, and TRAF6, cause the phenotypic expression of HED. Genetic alterations in EDA and WNT10A cause particularly non-syndromic/isolated oligodontia. In the current project, we recruited 57 patients of 17 genetic pedigrees (A-Q) from different geographic regions of the world, including Pakistan, Egypt, Saudi Arabia, and Syria. The molecular investigation of different syndromic and non-syndromic dental conditions, including hypodontia, oligodontia, generalized odontodysplasia, and dental crowding was carried out by using exome and Sanger sequencing. We have identified a novel missense variant (c.311G>A; p.Arg104His) in WNT10A in three oligodontia patients of family A, two novel sequence variants (c.207delinsTT, p.Gly70Trpfs*25 and c.1300T>G; p.Try434Gly) in EDAR in three patients of family B and four patients of family C, respectively. To better understand the structural and functional consequences of missense variants in WNT10A and EDAR on the stability of the proteins, we have performed extensive molecular dynamic (MD) simulations. We have also identified three previously reported pathogenic variants (c.1076T>C; p.Met359Thr), (c.1133C>T; p.Thr378Met) and (c.594_595insC; Gly201Argfs*39) in EDA in family D (four patients), E (two patients) and F (one patient), correspondingly. Presently, our data explain the genetic cause of 18 syndromic and non-syndromic tooth agenesis patients in six autosomal recessive and X-linked pedigrees (A-F), which expand the mutational spectrum of these unique clinical manifestations.

Dataset Information

The association between WNT10A variants and dental development in patients with isolated oligodontia.

Publications

The association between WNT10A variants and dental development in patients with isolated oligodontia.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets