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Article

A case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights.

BMC medical genomics - 17 Dec 2025

Nejati Parham, Khosravi Teymoor, Lorestani Saba, Oladnabi Morteza

Abstract excerpt

Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that can caused by mutations in the EDAR gene, which encodes the Ectodysplasin A receptor, leading to defective ectodermal structure development. This study investigates the molecular impact of a novel homozygous c.730 + 1G > T splice site variant in the EDAR gene, identified in a consanguineous Iranian family with HED. The 10-year-old proband...

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Anodontia
Child
Ectodermal Dysplasia 1, Anhidrotic
Edar Receptor
Homozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Dynamics Simulation

RNA Splice Sites

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Identifiers

PMID: 41408253
DOI: 10.1186/s12920-025-02300-7
PMCID: PMC12821806

Genes

EDAR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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