Dystrophic epidermolysis bullosa: genotype-phenotype correlations

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Abstract

Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene. The disease characterized by clinical heterogeneity. To date, scientific findings allow to evaluate correlations between the severity of clinical manifestations and genetic defects underlying in the development of the disease. A systematic literature search was performed using PubMed and RSCI, and keywords including “dystrophic epidermolysis bullosa”, “collagen VII”, “COL7A1”. The review includes description of clinical findings of dystrophic epidermolysis bullosa. The types and localization of pathogenic mutations of the COL7A1 gene, their influence on the protein synthesis, structure and functioning are characterized. The correlation between severe course of dystrophic epidermolysis bullosa and mutations resulting in premature termination codons generation which associate with the absence of type VII collagen at the dermo-epidermal junction has been described. Nevertheless, genotype-phenotype correlations should be analyzed carefully due to mechanisms which enable to restore protein expression as well as the possibility of the formation of premature termination codons associated with a more severe course of the disease, when replacing nucleotides in case of their influence on splicing.

About the authors

Alexey A. Kubanov

State Research Center of Dermatovenereology and Cosmetology

Email: alex@cnikvi.ru
ORCID iD: 0000-0002-7625-0503
SPIN-code: 8771-4990
Scopus Author ID: 6506502738

MD, Dr. Sci. (Med.), Professor, Academician of the Russian Academy of Sciences

Russian Federation, 3 bldg 6 Korolenko street, 107076 Moscow

Vadim V. Chikin

State Research Center of Dermatovenereology and Cosmetology

Author for correspondence.
Email: chikin@cnikvi.ru
ORCID iD: 0000-0002-9688-2727
SPIN-code: 3385-4723
Scopus Author ID: 57189351389
ResearcherId: AAB-7563-2020

MD, Dr. Sci. (Med.)

Russian Federation, 3 bldg 6 Korolenko street, 107076 Moscow

Arfenya E. karamova

State Research Center of Dermatovenereology and Cosmetology

Email: karamova@cnikvi.ru
ORCID iD: 0000-0003-3805-8489
SPIN-code: 3604-6491
Scopus Author ID: 56823599100
ResearcherId: N-7125-2017

MD, Cand. Sci. (Med.), Assistant Professor

Russian Federation, 3 bldg 6 Korolenko street, 107076 Moscow

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