Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.

ABSTRACT:

Background

Dystrophic epidermolysis bullosa (DEB) is due to variation in the COL7A1 gene. The clinical phenotype and severity depends on the type of variation and domain of the affected protein.

Objectives

To characterize the spectrum of COL7A1 variations in a cohort of DEB patients from India, to correlate these findings with clinical phenotypes and to establish a genotype-phenotype correlation.

Methods

This was a retrospective, observational study involving patients with DEB diagnosed on the basis of clinical manifestations, Immuno-fluorescence antigen mapping (IFM) and genetic analysis. A genotype-phenotype correlation was attempted and observations were further explained using IFM on skin biopsies and molecular dynamic simulations. Descriptive statistics were perf

SUBMITTER: Gupta D 

PROVIDER: S-EPMC10411825 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature