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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

Family Gender NM Exon/Intron Protein Affected domain NM Exon/Intron Protein Affected domain Origin Clinical Diagnosis HGMD (*)
5 M c.52-2A > G Intron 2 (−) Protein disruption c.212G > A Exon 4 p.Cys71Tyr TNF Receptor Inherited/Inherited HED [3]
18 M c.1072C > T Exon 9 p.Arg358* Death domain (−) (−) (−) (−) Inherited HED [26]
42 M c.1073G > A Exon 9 p.Arg358Gln Death domain (−) (−) (−) (−) Inherited HED [23]
12 F c.1259G > A Exon 12 p.Arg420Gln Death domain (−) (−) (−) (−) Inherited HED [26]
  1. F female, M male, HED hypohidrotic ectodermal dysplasia, (*) Reference in HGMD database