Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.

ABSTRACT:

Background

Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder caused by pathogenic variants in COL7A1.

Objectives

To determine the association between different COL7A1 variants and clinical disease severity in 236 North American patients with RDEB.

Methods

Published reports or in silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function. Three impact categories were postulated: genotypes that would be likely to cause a low impact on C7 function (splice B/missense, missense/missense); a medium impact [premature termination codon (PTC)/splice B, splice A/splice B, PTC/missense, splice A/missense, splice B/splice B]; and a high impact (PTC/PTC, PTC/splice A, splice A/splice A). Splic

SUBMITTER: Pathmarajah P 

PROVIDER: S-EPMC12036767 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature