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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

Family Gender NM Exon/Intron Protein Origin Clinical Diagnosis HGMD (*) Second variant
21 M c.308C > T Exon 6 p.Ser103Phe Inherited HED [36] EDA: c.572_589del18
38 F c.308C > T Exon 6 p.Ser103Phe Inherited HED [36]  
39 M c.308C > T Exon 6 p.Ser103Phe Inherited NSTA [36] WNT10A: c.682 T > A
40 M c.308C > T Exon 6 p.Ser103Phe Inherited HED [36]  
51 M c.308C > T Exon 6 p.Ser103Phe ND NSTA [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