Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

doi:10.1002/ajmg.a.35747

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Article

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.

American journal of medical genetics. Part A - 1 Apr 2013

Plaisancié Julie, Bailleul-Forestier Isabelle, Gaston Véronique, Vaysse Fréderic, Lacombe Didier, Holder-Espinasse Muriel, Abramowicz Marc, Coubes Christine, Plessis Ghislaine, Faivre Laurence, Demeer Bénédicte, Vincent-Delorme Catherine, Dollfus Hélène, Sigaudy Sabine, Guillén-Navarro Encarna, Verloes Alain, Jonveaux Philippe, Martin-Coignard Dominique, Colin Estelle, Bieth Eric, Calvas Patrick, Chassaing Nicolas

Abstract excerpt

Ectodermal dysplasias (ED) are a clinically and genetically heterogeneous group of hereditary disorders that have in common abnormal development of ectodermal derivatives. Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of eccrine sweat glands, hair, and teeth. The X-linked form of the disease, caused by mutations in the EDA gene, represents the majority of patients with the...

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Identifiers

PMID: 23401279
DOI: 10.1002/ajmg.a.35747

Genes

EDAR
EDA
EDARADD

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Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.PMID 23401279Read ↗

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.Semantic proximity Read ↗

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.Semantic proximity Read ↗

Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.Semantic proximity Read ↗

Mutations in WNT10A are present in more than half of isolated hypodontia cases.Semantic proximity Read ↗

Oligodontia and curly hair occur with ectodysplasin-a mutations.Semantic proximity Read ↗

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.Semantic proximity Read ↗

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia.Semantic proximity Read ↗

Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.Semantic proximity Read ↗

Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study.Semantic proximity Read ↗

EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature.Semantic proximity Read ↗

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