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Table 4 Allelic variants identified in the EDARADD gene

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

FamilyGenderNMExon/IntronProteinOriginClinical DiagnosisHGMD (*)Second variant
21Mc.308C > TExon 6p.Ser103PheInheritedHED[36]EDA: c.572_589del18
38Fc.308C > TExon 6p.Ser103PheInheritedHED[36] 
39Mc.308C > TExon 6p.Ser103PheInheritedNSTA[36]WNT10A: c.682 T > A
40Mc.308C > TExon 6p.Ser103PheInheritedHED[36] 
51Mc.308C > TExon 6p.Ser103PheNDNSTA[36]EDA: c.866G > A
  1. F female, M male, HED, hypohidrotic ectodermal dysplasia, (*) Reference in HGMD database, NSTA non-syndromic tooth agenesis, ND no data