title: A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia.
abstract: 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.
  
  
  OBJECTIVE
  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.
  
  
  CONCLUSIONS
  This is the first report of a heterozygous TRAF6 sequence variant associated with symptoms typical of HED.
authors.affiliation: Faculty of Public Health WSPiA, 213-215, 28 Czerwca St, 61-485 Poznan, Poland.
authors.forename: S A
authors.initials: SA
authors.lastname: Wisniewski
authors.forename: W H
authors.initials: WH
authors.lastname: Trzeciak
mesh_terms: D000293:Adolescent; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006801:Humans; D017384:Sequence Deletion / Q000235:genetics*; D048029:TNF Receptor-Associated Factor 6 / Q000235:genetics*
chemical_list: D048029:TNF Receptor-Associated Factor 6