Table 1 Phenotype of individuals with homozygous and heterozygous COL7A1 c.1573 C > T:p.(Arg525*) variants
From: A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa
This study | Khan et al., 2021 | Fozia et al., 2022 | |||||
|---|---|---|---|---|---|---|---|
Family ID/Patient ID | ED-5/(II:5) | ED-5/(II:6) | ED-5/(III:2) | Family7/(III:6) | Family C/(V-2) | ||
Zygosity status | 0/1 | 0/1 | 1/1 | 1/1 | 1/1 | ||
Phenotypes | |||||||
Blisters | - | - | + | + | + | ||
Erosions & erythematous skin | - | - | + | + | + | ||
Black tartar on teeth\edentulism | + | - | - | - | - | ||
Skin dryness | + | + | + | - | - | ||
Oral Blisters | - | - | + | + | + | ||
Milia | - | - | + | + | - | ||
Nail dystrophy (onychogryphosis) | - | + | + | + | + | ||
Yellowish crusted lesion ear | - | - | + | + | - | ||
Beau’s lines | - | + | - | - | - | ||
Club Nails | - | + | + | - | - | ||
Joint contractures | - | - | - | - | + | ||
Severe anemia | - | - | - | - | + | ||
Growth delay | - | - | - | - | + | ||
Frequent corneal & conjunctival erosions | - | - | - | - | + | ||
Symblepharon | - | - | - | - | + | ||
Exposure Keratitis | - | - | - | - | + | ||
Clinical details of the affected individuals and comparison with previously reported cases with the same c.1573 C > T:p.(Arg525*) variant. 0/1: heterozygous; 1/1: homozygous. | |||||||