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Table 3 Allelic variants identified in the EDAR gene

From: EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

FamilyGenderNMExon/IntronProteinAffected domainNMExon/IntronProteinAffected domainOriginClinical DiagnosisHGMD (*)
5Mc.52-2A > GIntron 2(−)Protein disruptionc.212G > AExon 4p.Cys71TyrTNF ReceptorInherited/InheritedHED[3]
18Mc.1072C > TExon 9p.Arg358*Death domain(−)(−)(−)(−)InheritedHED[26]
42Mc.1073G > AExon 9p.Arg358GlnDeath domain(−)(−)(−)(−)InheritedHED[23]
12Fc.1259G > AExon 12p.Arg420GlnDeath domain(−)(−)(−)(−)InheritedHED[26]
  1. F female, M male, HED hypohidrotic ectodermal dysplasia, (*) Reference in HGMD database