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Table 5 EDA genotypes of affected individuals and X-chromosome inactivation patterns

From: No evidence for preferential X-chromosome inactivation as the main cause of divergent phenotypes in sisters with X-linked hypohidrotic ectodermal dysplasia

Code EDA variant Changes at the amino acid level Predicted effect XI ratios in % (A1:A2)* Classification
F1_S1 c.64_71dup8 p.Cys25AlafsX35 Truncated, dysfunctional protein, possibly causing NMD 51:49 Random
F1_S2 c.64_71dup8 p.Cys25AlafsX35 Truncated, dysfunctional protein, possibly causing NMD 54:46 Random
F1_M c.64_71dup8 p.Cys25AlafsX35 Truncated, dysfunctional protein, possibly causing NMD 47:53 Random
F2_S1 c.917A>G p.Gln306Arg Impaired receptor binding 37:63 Random
F2_S2 c.917A>G p.Gln306Arg Impaired receptor binding 51:49 Random
F2_M c.917A>G p.Gln306Arg Impaired receptor binding 64:36 Random
F3_S1 c.871G>A p.Gly291Arg Impaired receptor binding 31:69 Moderately skewed
F3_S2 c.871G>A p.Gly291Arg Impaired receptor binding 65:35 Random
F3_F c.871G>A p.Gly291Arg Impaired receptor binding / /
F4_S1 c.467G>A p.Arg156His Abolished furin cleavage 46:54 Random
F4_S2 c.467G>A p.Arg156His Abolished furin cleavage 39:61 Random
F4_M c.467G>A p.Arg156His Abolished furin cleavage 30:70 Moderately skewed
F5_S1 c.1045G>A p.Ala349Thr Impaired receptor binding 76:24 Moderately skewed
F5_S2 c.1045G>A p.Ala349Thr Impaired receptor binding 61:39 Random
F5_F c.1045G>A p.Ala349Thr Impaired receptor binding / /
F6_S1 c.1133C>T p.Thr378Met Impaired receptor binding 81:19 Highly skewed
F6_S2 c.1133C>T p.Thr378Met Impaired receptor binding 71:29 Moderately skewed
F6_M c.1133C>T p.Thr378Met Impaired receptor binding 54:46 Random
  1. Abbreviations: F, family; S, sister; M, mother; NMD, nonsense-mediated decay; A1, allele 1 (the shorter allele); A2, allele 2 (the longer allele); *rounded mean values of the experiments using HpaII and CfoI, respectively; bold values mark the alleles with the disease-causing EDA variant