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Table 1 Allelic variants identified in the EDA gene

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

FamilyGenderNMExon/IntronProteinAffected domainVariantOriginClinical DiagnosisHGMD (*)
10FGene deletionComplete(−)Gene lossDeletionDe novoHED[22]
13Mc.58C > TExon 1p.Arg20TerTransmembrane domainNonsenseInheritedHED[23]
26Mc.164 T > CExon 1p.Leu55ProTransmembrane domainMissenseInheritedHEDNovel
20MExon 1 deletionExon 1(−)Complete protein lossDeletionInheritedHED[24]
33FExon 1 deletionExon 1(−)Complete protein lossDeletionDe novoHED[24]
35Mc.457C > TExon 2p.Arg153CysFurin subdomainMissenseDe novoHED[25]
34Mc.463C > TExon 2p.Arg155CysFurin subdomainMissenseDe novoHED[26]
45Mc.467G > AExon 2p.Arg156HisFurin cleavage siteMissenseInheritedHED[26]
47Mc.467G > AExon 2p.Arg156HisFurin cleavage siteMissenseInheritedHED[26]
31Fc.516delCExon 3p.Asn172Lysfs*108(−)Frame ShiftDe novoHEDNovel
17Mc.546_581del36Exon 4p.Asn185_Pro196delCollagen-like domainIn-Frame DeletionInheritedHED[26]
37Mc.553_588del36Exon 4p.Asn185_Pro196delCollagen-like domainIn-Frame DeletionInheritedHED[27]
21Mc.572_589del18Exon 4p.Pro191_Pro196delCollagen-like domainIn-Frame DeletionInheritedHED[28]
23Mc.572_589del18Exon 4p.Pro191_Pro196delCollagen-like domainIn-Frame DeletionInheritedHED[28]
48Mc.572_589del18Exon 4p.Pro191_Pro196delCollagen-like domainIn-Frame DeletionInheritedHED[28]
50Mc.599C > GExon 4p.Pro200ArgCollagen-like domainMissenseInheritedHEDNovel
36Fc.612delGExon 4(−)Collagen-like domainFrame ShiftDe novoHEDNovel
02Mc.612_629del18Exon 4p.Ile205_Gly210delCollagen-like domainIn-Frame DeletionInheritedHED[29]
06Mc.653G > TExon 4p.Gly218ValCollagen-like domainMissenseInheritedHED[30]
01Mc.663_697del35Exon 4p.Pro222Thrfs*Collagen-like domainFrame ShiftInheritedHED[26]
29Mc. 728_735del8Exon 5p.Thr243Lysfs*20(−)Frame ShiftDe novoHED[24]
11Fc.729_735del7Exon 5p.Arg244Thrfs*34(−)Frame ShiftInheritedHEDNovel
14Mc.760C > TExon 6p.Gln254*TNF homology domainNonsenseDe novoHEDNovel
22Mc.793 + 1G > CIntron 6(−)TNF homology domainSplicingInheritedHED[25]
51Mc.866G > AExon7p.Gly289HisTNF homology domainMissenseNDNSTA[31]
15Fc.871G > CExon 7p.Gly291ArgTNF homology domainMissenseInheritedHEDNovel [28](#)
16Fc.880G > TExon 7p.Glu294TerTNF homology domainNonsenseDe novoHEDNovel
07Mc.892G > TExon 7p.Asp298TyrTNF homology domainMissenseInheritedHED[32]
08Mc.895G > AExon 7p.Gly299SerTNF homology domainMissenseInheritedHED[26]
09Mc.895G > CExon 7p.Gly299ArgTNF homology domainMissenseInheritedHED[33]
03Mc.995G > AExon 8p.Cys332TyrTNF homology domainMissenseInheritedHED[24]
30Mc.1027 T > GExon 8p.Tyr343AspTNF homology domainMissenseInheritedHEDNovel
19Mc.1037G > AExon 8p.Cys346TyrTNF homology domainMissenseInheritedHED[7]
24Mc.1045G > AExon 8p.Ala349ThrTNF homology domainMissenseInheritedHED[26]
04Mc.1045G > AExon 8p.Ala349ThrTNF homology domainMissenseInheritedHED[26]
32Mc.1049G > AExon 8p.Gly350AspTNF homology domainMissenseInheritedHED[34]
25Mc.1069C > TExon 8p.Arg357TrpTNF homology domainMissenseInheritedHED[29]
  1. F female, M male, TNF tumour necrosis factor, NM nucleotide mutation, HED hypohidrotic ectodermal dysplasia, (*) Reference in HGMD database, (#) Novel variant in a nucleotide resulting in an equivalent amino acid, NSTA non-syndromic tooth agenesis, ND no data