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EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics.
Umeå University, Faculty of Medicine, Department of Odontology, Pediatric Dentistry.
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Medical and Clinical Genetics.
Umeå University, Faculty of Medicine, Department of Public Health and Clinical Medicine, Dermatology and Venerology.ORCID iD: 0000-0002-3858-8474
2006 (English)In: BMC Medical Genetics, ISSN 1471-2350, Vol. 7, 80- p.Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by defective development of teeth, hair, nails and eccrine sweat glands. Both autosomal dominant and autosomal recessive forms of HED have previously been linked to mutations in the ectodysplasin 1 anhidrotic receptor (EDAR) protein that plays an important role during embryogenesis.

METHODS: The coding DNA sequence of the EDAR gene was analyzed in two large Swedish three-generational families with autosomal dominant HED.

RESULTS: A non-sense C to T mutation in exon 12 was identified in both families. This disease-specific mutation changes an arginine amino acid in position 358 of the EDAR protein into a stop codon (p.Arg358X), thereby truncating the protein. In addition to the causative mutation two polymorphisms, not associated with the HED disorder, were also found in the EDAR gene.

CONCLUSION: The finding of the p.Arg358X mutation in the Swedish families is the first corroboration of a previously described observation in an American family. Thus, our study strengthens the role of this particular mutation in the aetiology of autosomal dominant HED and confirms the importance of EDAR for the development of HED.

Place, publisher, year, edition, pages
BioMed Central, 2006. Vol. 7, 80- p.
Keyword [en]
gene; homolog; protein; tabby; ectodysplasin; domain; mouse
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:umu:diva-21235DOI: 10.1186/1471-2350-7-80PubMedID: 17125505OAI: oai:DiVA.org:umu-21235DiVA: diva2:211099
Available from: 2009-04-08 Created: 2009-04-08 Last updated: 2014-06-30Bibliographically approved

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Lind, Lisbet KStecksén-Blicks, ChristinaLejon, KristinaSchmitt-Egenolf, Marcus

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