Funding sources This work was supported by a grant from WSPiA. S.A.W. was the recipient of a scholarship from the Postgraduate School of Molecular Medicine affiliated to Warsaw Medical University.
A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia
Article first published online: 25 MAY 2012
© 2012 The Authors. BJD © 2012 British Association of Dermatologists
British Journal of Dermatology
Volume 166, Issue 6, pages 1353–1356, June 2012
How to Cite
Wisniewski, S.A. and Trzeciak, W.H. (2012), A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia. British Journal of Dermatology, 166: 1353–1356. doi: 10.1111/j.1365-2133.2012.10871.x
Conflicts of interest None declared.
- Issue published online: 25 MAY 2012
- Article first published online: 25 MAY 2012
- Accepted manuscript online: 1 FEB 2012 02:11PM EST
- Accepted for publication 21 January 2012
Summary Background Mutations in the genes encoding components of the tumour necrosis factor (TNF)-α-like pathway cause hypohidrotic ectodermal dysplasia (HED). It has been postulated that the TNF receptor-associated factor 6 (TRAF6) is also involved in this pathway.
Objectives To investigate mutations in the TRAF6 gene in an individual with HED.
Methods Genetic analysis was performed on TRAF6 in a patient with HED, her parents, her sister and 150 ethnically matched, healthy individuals.
Results In the patient, sequencing analysis of one DNA strand revealed a deletion of eight nucleotides (c.1074–1081delCAATTTG) in the 5′ fragment of the last exon of TRAF6, while no deletion was detected in the other DNA strand indicating a heterozygous mutation. No such sequence abnormality was detected in the patient’s parents and her sister.
Conclusion This is the first report of a heterozygous TRAF6 sequence variant associated with symptoms typical of HED.