Table 2 Variants in COL7A1 consistent with semi-dominant inheritance in additional families
From: A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa
McGrath et al., 2011 | Christiano et al., 1996 | |
|---|---|---|
p.(Gly1770Ser) | p.(Gly2351Arg) | |
Two affected Brothers (1/1) | Affected distant cousin (1/1) | Affected (0/1)+(0/1)* |
Skin fragility | Skin fragility | Scarring along the trunk |
Skin scarring | Skin scarring | Extremities, face and scalp |
Oral erosions | Oral erosions | Synechias (webbing) |
Poor wound healing | Poor wound healing | Mutilations of hands |
Mother (0/1) | Mother (0/1) | Mother (0/1) |
Inflammation on shins | No reported clinical phenotype | Erosions on forearm |
Nail dystrophy | Shading of the toenails | |
Blistering | ||
Father (0/1) | Father (0/1) | Maternal grandfather (0/1) |
Nail dystrophy | No reported clinical phenotype | Blisters on hands |
Nail loss | ||
Clinical demonstration of additional families with COL7A1 variants showing semi-dominant inheritance. 0/1: heterozygous; 1/1: homozygous. | ||