Determing Severity in Epidermolysis Bullosa

An article published in January 2025 shared a more accurate way of identifying severity in EB. 

Mild EB:

Splice B/Missense

Missense/Missense

Moderate EB:

PTC/Splice B

Splice A/Splice B

Splice A/Missense

Splice B/Splice B

Severe EB:

PTC/PTC

PTC/Splice A

Splice A/Splice A

PTC= premature termination codon

PTC AKA Nonsense 

Splice A: a downstream PTC mutation 

Spice B: an in-frame Exon Skipping