Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.

ABSTRACT:

Background

Hypohidrotic ectodermal dysplasia (HED) is the most common form of ectodermal dysplasia and is mainly associated with mutations in the EDA, EDAR, and EDARADD responsible for the development of ectodermal-derived structures. HED displays different modes of inheritance according to the gene that is involved, with X-linked EDA-related HED being the most frequent form of the disease.

Methods

Two families with tooth agenesis and manifestations of HED underwent clinical examination and EDA, EDAR, and EDARADD genetic analysis. The impact of the novel variant on the protein was evaluated through bioinformatics tools, whereas molecular modeling was used to predict the effect on the protein structure.

Results

A novel missense variant was identified in the EDAR (c.287

SUBMITTER: Andreoni F 

PROVIDER: S-EPMC7963410 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature