Table 3.

Epidermolysis Bullosa Simplex Phenotype Correlations by Gene

GeneMOIReported Phenotypes
Localized
EBS
Intermediate
EBS
EBS w/mottled
pigmentation
Severe
EBS
Other EBS subtypes
CD151 AREBS, localized w/nephropathy w/CD151 deficiency
DST AREBS, localized or intermediate w/BP230 deficiency
EXPH5 AREBS, localized or intermediate w/exophilin 5 deficiency
KLHL24 ADEBS, intermediate w/cardiomyopathy
KRT5 AD 1EBS w/migratory circinate erythema
ARRecessive EBS, intermediate or severe w/KRT5 pathogenic variants
KRT14 AD 1
ARRecessive EBS, intermediate or severe w/KRT14 pathogenic variants
PLEC ADEBS, intermediate w/PLEC pathogenic variants 2
AR
  • EBS, intermediate w/PLEC pathogenic variants
  • EBS, intermediate w/muscular dystrophy
  • EBS, severe w/pyloric atresia
1.

Pathogenic variants associated with autosomal dominant inheritance act in a dominant-negative manner.

2.

The heterozygous pathogenic PLEC variant c.5998C>T causes the autosomal dominant subtype formerly known as EBS-Ogna.

From: Epidermolysis Bullosa Simplex

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