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.