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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

Family Gender NM Exon/Intron Protein Affected domain Variant Origin Clinical Diagnosis HGMD (*)
10 F Gene deletion Complete (−) Gene loss Deletion De novo HED [22]
13 M c.58C > T Exon 1 p.Arg20Ter Transmembrane domain Nonsense Inherited HED [23]
26 M c.164 T > C Exon 1 p.Leu55Pro Transmembrane domain Missense Inherited HED Novel
20 M Exon 1 deletion Exon 1 (−) Complete protein loss Deletion Inherited HED [24]
33 F Exon 1 deletion Exon 1 (−) Complete protein loss Deletion De novo HED [24]
35 M c.457C > T Exon 2 p.Arg153Cys Furin subdomain Missense De novo HED [25]
34 M c.463C > T Exon 2 p.Arg155Cys Furin subdomain Missense De novo HED [26]
45 M c.467G > A Exon 2 p.Arg156His Furin cleavage site Missense Inherited HED [26]
47 M c.467G > A Exon 2 p.Arg156His Furin cleavage site Missense Inherited HED [26]
31 F c.516delC Exon 3 p.Asn172Lysfs*108 (−) Frame Shift De novo HED Novel
17 M c.546_581del36 Exon 4 p.Asn185_Pro196del Collagen-like domain In-Frame Deletion Inherited HED [26]
37 M c.553_588del36 Exon 4 p.Asn185_Pro196del Collagen-like domain In-Frame Deletion Inherited HED [27]
21 M c.572_589del18 Exon 4 p.Pro191_Pro196del Collagen-like domain In-Frame Deletion Inherited HED [28]
23 M c.572_589del18 Exon 4 p.Pro191_Pro196del Collagen-like domain In-Frame Deletion Inherited HED [28]
48 M c.572_589del18 Exon 4 p.Pro191_Pro196del Collagen-like domain In-Frame Deletion Inherited HED [28]
50 M c.599C > G Exon 4 p.Pro200Arg Collagen-like domain Missense Inherited HED Novel
36 F c.612delG Exon 4 (−) Collagen-like domain Frame Shift De novo HED Novel
02 M c.612_629del18 Exon 4 p.Ile205_Gly210del Collagen-like domain In-Frame Deletion Inherited HED [29]
06 M c.653G > T Exon 4 p.Gly218Val Collagen-like domain Missense Inherited HED [30]
01 M c.663_697del35 Exon 4 p.Pro222Thrfs* Collagen-like domain Frame Shift Inherited HED [26]
29 M c. 728_735del8 Exon 5 p.Thr243Lysfs*20 (−) Frame Shift De novo HED [24]
11 F c.729_735del7 Exon 5 p.Arg244Thrfs*34 (−) Frame Shift Inherited HED Novel
14 M c.760C > T Exon 6 p.Gln254* TNF homology domain Nonsense De novo HED Novel
22 M c.793 + 1G > C Intron 6 (−) TNF homology domain Splicing Inherited HED [25]
51 M c.866G > A Exon7 p.Gly289His TNF homology domain Missense ND NSTA [31]
15 F c.871G > C Exon 7 p.Gly291Arg TNF homology domain Missense Inherited HED Novel [28](#)
16 F c.880G > T Exon 7 p.Glu294Ter TNF homology domain Nonsense De novo HED Novel
07 M c.892G > T Exon 7 p.Asp298Tyr TNF homology domain Missense Inherited HED [32]
08 M c.895G > A Exon 7 p.Gly299Ser TNF homology domain Missense Inherited HED [26]
09 M c.895G > C Exon 7 p.Gly299Arg TNF homology domain Missense Inherited HED [33]
03 M c.995G > A Exon 8 p.Cys332Tyr TNF homology domain Missense Inherited HED [24]
30 M c.1027 T > G Exon 8 p.Tyr343Asp TNF homology domain Missense Inherited HED Novel
19 M c.1037G > A Exon 8 p.Cys346Tyr TNF homology domain Missense Inherited HED [7]
24 M c.1045G > A Exon 8 p.Ala349Thr TNF homology domain Missense Inherited HED [26]
04 M c.1045G > A Exon 8 p.Ala349Thr TNF homology domain Missense Inherited HED [26]
32 M c.1049G > A Exon 8 p.Gly350Asp TNF homology domain Missense Inherited HED [34]
25 M c.1069C > T Exon 8 p.Arg357Trp TNF homology domain Missense Inherited HED [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