A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.
We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous nasal discharge. The girl was the second born child of first-cousin immigrants from Northern Iraq. A novel homozygous mutation (c.84delC) in the EDAR gene was identified. This mutation most likely causes a frameshift in the protein product (p.S29fs*74). This results in abolition of all ectodysplasin-mediated NF-kB signalling. This complete loss-of-function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient.
Department of Dermatology and Allergy Centre, Odense University Hospital, Odense, Denmark.
Emil
E
Henningsen
Mathias Tiedemann
MT
Svendsen
Dorte Launholt
DL
Lildballe
Peter Kjestrup Axel
PK
Jensen
D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D053360:Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / Q000175:diagnosis* / Q000235:genetics*; D053339:Edar Receptor / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D009154:Mutation; D010641:Phenotype; D012720:Severity of Illness Index
C506008:EDAR protein, human; D053339:Edar Receptor
EDA; EDAR; KPP; NF-kB; autosomal recessive; clinical findings; hypohidrotic ectodermal dysplasia; novel mutation