EDAR mutation in families with hypohidrotic ectodermal dysplasia
Author Information
Author(s): Lind Lisbet K, Stecksén-Blicks Christina, Lejon Kristina, Schmitt-Egenolf Marcus
Primary Institution: Umeå University
Hypothesis
The study aims to identify mutations in the EDAR gene associated with autosomal dominant hypohidrotic ectodermal dysplasia in Swedish families.
Conclusion
The study confirms the role of the p.Arg358X mutation in the EDAR gene as a significant factor in the development of autosomal dominant hypohidrotic ectodermal dysplasia.
Supporting Evidence
- A non-sense mutation in exon 12 of the EDAR gene was identified in both families.
- The mutation changes an arginine amino acid into a stop codon, truncating the protein.
- This study corroborates a previously described observation in an American family.
Takeaway
Some families in Sweden have a genetic change that causes a condition affecting their teeth, hair, and ability to sweat.
Methodology
The coding DNA sequence of the EDAR gene was analyzed in two large Swedish families with autosomal dominant HED.
Limitations
The study is limited to two families from the same geographical region, which may not represent the broader population.
Participant Demographics
The study involved two Swedish families with a history of autosomal dominant hypohidrotic ectodermal dysplasia.
Digital Object Identifier (DOI)
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